Regeneron Genomic Variant Structure

{
  "title": "Genomic Variant Structure",
  "description": "JSON structure documentation for the Regeneron Genomic Variant entity",
  "fields": [
    { "name": "variantId", "type": "string", "required": true, "description": "Unique variant identifier (rsID or internal)" },
    { "name": "chromosome", "type": "string", "required": true, "description": "Chromosome (1-22, X, Y, MT)" },
    { "name": "position", "type": "integer", "required": true, "description": "1-based genomic position" },
    { "name": "referenceAllele", "type": "string", "required": true, "description": "Reference genome nucleotides" },
    { "name": "alternateAllele", "type": "string", "required": true, "description": "Alternate allele nucleotides" },
    { "name": "variantType", "type": "string", "required": false, "description": "SNP, INDEL, CNV, SV, INSERTION, DELETION" },
    { "name": "gene", "type": "string", "required": false, "description": "Gene symbol" },
    { "name": "hgvs", "type": "string", "required": false, "description": "HGVS variant nomenclature" },
    { "name": "clinicalSignificance", "type": "string", "required": false, "description": "ClinVar classification" },
    { "name": "alleleFrequency", "type": "number", "required": false, "description": "Population allele frequency (0-1)" },
    { "name": "qualityScore", "type": "number", "required": false, "description": "Variant calling quality score" },
    { "name": "depth", "type": "integer", "required": false, "description": "Sequencing read depth" },
    { "name": "genotype", "type": "string", "required": false, "description": "Sample genotype notation" },
    { "name": "phenotypes", "type": "array[string]", "required": false, "description": "Associated HPO or OMIM phenotype terms" }
  ]
}