regeneron-pharmaceuticals · Example Payload

Regeneron Genomic Variant Example

Example genomic variant record in the format used by Regeneron Genetics Center analysis pipelines

PharmaceuticalsBiotechnologyGenomicsBioinformaticsDrug DiscoveryClinical ResearchLife SciencesFortune 500

Regeneron Genomic Variant Example is an example object payload from regeneron-pharmaceuticals, with 2 top-level fields. It illustrates the shape of data this provider's APIs accept or return.

Top-level fields

descriptionvariant

Example Payload

{
  "description": "Example genomic variant record in the format used by Regeneron Genetics Center analysis pipelines",
  "variant": {
    "variantId": "rs699",
    "chromosome": "1",
    "position": 230845794,
    "referenceAllele": "G",
    "alternateAllele": "A",
    "variantType": "SNP",
    "gene": "AGT",
    "hgvs": "NM_000029.4:c.803G>A",
    "clinicalSignificance": "Likely Pathogenic",
    "alleleFrequency": 0.4213,
    "qualityScore": 99.0,
    "depth": 45,
    "genotype": "0/1",
    "phenotypes": [
      "Hypertension",
      "Cardiovascular Disease"
    ]
  }
}