{
  "url": "https://dantelabs.com/fr/genes/rapsn",
  "gene": {
    "slug": "rapsn",
    "symbol": "RAPSN",
    "name": "receptor associated protein of the synapse",
    "hgnc": "HGNC:9863",
    "summary": null,
    "location": "11p11.2",
    "locusType": "gene with protein product",
    "aliases": [
      "RNF205",
      "CMS1D",
      "CMS1E"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000165917",
    "entrezId": 5913,
    "omim": [
      "601592"
    ],
    "uniprot": [
      "Q13702"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 47437764,
      "end": 47449136,
      "strand": "-",
      "ensemblTranscript": "ENST00000298854.7",
      "refseqTranscript": "NM_005055.5",
      "ensemblProtein": "ENSP00000298854.2",
      "refseqProtein": "NP_005046.2",
      "exons": [
        {
          "start": 47437764,
          "end": 47438047
        },
        {
          "start": 47438732,
          "end": 47438931
        },
        {
          "start": 47441159,
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        },
        {
          "start": 47441611,
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        },
        {
          "start": 47441823,
          "end": 47441921
        },
        {
          "start": 47442656,
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        },
        {
          "start": 47447812,
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        },
        {
          "start": 47448773,
          "end": 47449136
        }
      ],
      "cds": {
        "start": 47437975,
        "end": 47448964
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 47459308,
      "end": 47470730,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 46943450,
      "end": 47943449,
      "genes": [
        {
          "symbol": "CSTPP1",
          "ensemblId": "ENSG00000149179",
          "biotype": "protein_coding",
          "start": 46936689,
          "end": 47165535,
          "strand": "+",
          "slug": "cstpp1"
        },
        {
          "symbol": "ARFGAP2",
          "ensemblId": "ENSG00000149182",
          "biotype": "protein_coding",
          "start": 47135667,
          "end": 47177474,
          "strand": "-",
          "slug": "arfgap2"
        },
        {
          "symbol": "PACSIN3",
          "ensemblId": "ENSG00000165912",
          "biotype": "protein_coding",
          "start": 47177511,
          "end": 47187487,
          "strand": "-",
          "slug": "pacsin3"
        },
        {
          "symbol": "DDB2",
          "ensemblId": "ENSG00000134574",
          "biotype": "protein_coding",
          "start": 47214435,
          "end": 47240555,
          "strand": "+",
          "slug": "ddb2"
        },
        {
          "symbol": "ACP2",
          "ensemblId": "ENSG00000134575",
          "biotype": "protein_coding",
          "start": 47237598,
          "end": 47249288,
          "strand": "-",
          "slug": "acp2"
        },
        {
          "symbol": "NR1H3",
          "ensemblId": "ENSG00000025434",
          "biotype": "protein_coding",
          "start": 47248300,
          "end": 47269131,
          "strand": "+",
          "slug": "nr1h3"
        },
        {
          "symbol": "MADD",
          "ensemblId": "ENSG00000110514",
          "biotype": "protein_coding",
          "start": 47269161,
          "end": 47330038,
          "strand": "+",
          "slug": "madd"
        },
        {
          "symbol": "MYBPC3",
          "ensemblId": "ENSG00000134571",
          "biotype": "protein_coding",
          "start": 47331406,
          "end": 47352702,
          "strand": "-",
          "slug": "mybpc3"
        },
        {
          "symbol": "SPI1",
          "ensemblId": "ENSG00000066336",
          "biotype": "protein_coding",
          "start": 47354860,
          "end": 47409369,
          "strand": "-",
          "slug": "spi1"
        },
        {
          "symbol": "SLC39A13",
          "ensemblId": "ENSG00000165915",
          "biotype": "protein_coding",
          "start": 47407132,
          "end": 47416587,
          "strand": "+",
          "slug": "slc39a13"
        },
        {
          "symbol": "PSMC3",
          "ensemblId": "ENSG00000165916",
          "biotype": "protein_coding",
          "start": 47418765,
          "end": 47426488,
          "strand": "-",
          "slug": "psmc3"
        },
        {
          "symbol": "CELF1",
          "ensemblId": "ENSG00000149187",
          "biotype": "protein_coding",
          "start": 47465933,
          "end": 47565569,
          "strand": "-",
          "slug": "celf1"
        },
        {
          "symbol": "NDUFS3",
          "ensemblId": "ENSG00000213619",
          "biotype": "protein_coding",
          "start": 47565336,
          "end": 47584565,
          "strand": "+",
          "slug": "ndufs3"
        },
        {
          "symbol": "PTPMT1",
          "ensemblId": "ENSG00000110536",
          "biotype": "protein_coding",
          "start": 47565430,
          "end": 47573461,
          "strand": "+",
          "slug": "ptpmt1"
        },
        {
          "symbol": "KBTBD4",
          "ensemblId": "ENSG00000123444",
          "biotype": "protein_coding",
          "start": 47572196,
          "end": 47578982,
          "strand": "-",
          "slug": "kbtbd4"
        },
        {
          "symbol": "FAM180B",
          "ensemblId": "ENSG00000196666",
          "biotype": "protein_coding",
          "start": 47586207,
          "end": 47589195,
          "strand": "+",
          "slug": "fam180b"
        },
        {
          "symbol": "C1QTNF4",
          "ensemblId": "ENSG00000172247",
          "biotype": "protein_coding",
          "start": 47589666,
          "end": 47595642,
          "strand": "-",
          "slug": "c1qtnf4"
        },
        {
          "symbol": "MTCH2",
          "ensemblId": "ENSG00000109919",
          "biotype": "protein_coding",
          "start": 47604339,
          "end": 47642698,
          "strand": "-",
          "slug": "mtch2"
        },
        {
          "symbol": "AGBL2",
          "ensemblId": "ENSG00000165923",
          "biotype": "protein_coding",
          "start": 47659591,
          "end": 47715389,
          "strand": "-",
          "slug": "agbl2"
        },
        {
          "symbol": "FNBP4",
          "ensemblId": "ENSG00000109920",
          "biotype": "protein_coding",
          "start": 47716494,
          "end": 47767460,
          "strand": "-",
          "slug": "fnbp4"
        },
        {
          "symbol": "NUP160",
          "ensemblId": "ENSG00000030066",
          "biotype": "protein_coding",
          "start": 47777872,
          "end": 47848561,
          "strand": "-",
          "slug": "nup160"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myasthenic-syndrome",
        "name": "Syndrome myasthénique congénital",
        "diseases": [
          {
            "mondoId": "MONDO:0018940",
            "name": "Syndrome myasthénique congénital (tous types)",
            "genes": 27,
            "inheritance": null,
            "description": "Terme générique regroupant l'ensemble des syndromes myasthéniques congénitaux, y compris les formes fréquentes liées à CHRNE, RAPSN, DOK7 et MUSK.",
            "management": "De nombreuses formes répondent à des médicaments spécifiques, tels que la pyridostigmine, le salbutamol ou l'éphédrine, et le choix approprié dépend du gène concerné.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/congenital-myasthenic-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "absent-palmar-crease",
        "name": "Absent palm lines",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-palmar-crease"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "broad-neck",
        "name": "Broad neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/broad-neck"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation",
        "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "falls",
        "name": "Falls",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/falls"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "long-face",
        "name": "Long face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/long-face"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "neonatal-hypotonia",
        "name": "Low muscle tone, in neonatal onset",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/neonatal-hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "neonatal-respiratory-distress",
        "name": "Neonatal respiratory distress",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neonatal-respiratory-distress"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "respiratory-tract-infection",
        "name": "Respiratory tract infection",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-tract-infection"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "tented-upper-lip-vermilion",
        "name": "Tented mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "tube-feeding",
        "name": "Tube feeding",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tube-feeding"
      },
      {
        "slug": "intestinal-hypoplasia",
        "name": "Underdeveloped instestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intestinal-hypoplasia"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "weak-cry",
        "name": "Weak cry",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/weak-cry"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "agrn",
        "symbol": "AGRN",
        "name": "agrin",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/agrn"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/alg2"
      },
      {
        "slug": "chat",
        "symbol": "CHAT",
        "name": "choline O-acetyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/chat"
      },
      {
        "slug": "chrna1",
        "symbol": "CHRNA1",
        "name": "cholinergic receptor nicotinic alpha 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/chrna1"
      },
      {
        "slug": "chrnb1",
        "symbol": "CHRNB1",
        "name": "cholinergic receptor nicotinic beta 1 subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/chrnb1"
      },
      {
        "slug": "chrnd",
        "symbol": "CHRND",
        "name": "cholinergic receptor nicotinic delta subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/chrnd"
      },
      {
        "slug": "chrne",
        "symbol": "CHRNE",
        "name": "cholinergic receptor nicotinic epsilon subunit",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/chrne"
      },
      {
        "slug": "col13a1",
        "symbol": "COL13A1",
        "name": "collagen type XIII alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/col13a1"
      },
      {
        "slug": "colq",
        "symbol": "COLQ",
        "name": "collagen like tail subunit of asymmetric acetylcholinesterase",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/colq"
      },
      {
        "slug": "dok7",
        "symbol": "DOK7",
        "name": "docking protein 7",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dok7"
      },
      {
        "slug": "dpagt1",
        "symbol": "DPAGT1",
        "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
        "shared": 1,
        "url": "https://dantelabs.com/fr/genes/dpagt1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}