{ "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" ] } }