Cortexa research tool·genomics·biothings

MyVariant Query Variants

Search for genetic variants by various criteria including rsID, gene, chromosome position, or clinical significance. Returns variant annotations from sources like dbSNP, ClinVar, gnomAD, and CADD.

Livelast probed 2026-04-30 23:07Z· 94msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 94ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "fields": {
      "default": "dbsnp.rsid,clinvar.rcv.clinical_significance,cadd.phred,gnomad_genome.af.af",
      "description": "Comma-separated fields to return. Common: dbsnp, clinvar, cadd, gnomad_genome, dbnsfp.",
      "type": "string"
    },
    "query": {
      "description": "Search query. Examples: 'rs58991260' (rsID), 'chr7:g.55249071G>A' (HGVS), 'clinvar.gene.symbol:BRCA1' (gene in ClinVar), 'cadd.phred:>30' (high CADD score).",
      "type": "string"
    },
    "size": {
      "default": 10,
      "description": "Maximum number of results (1-100).",
      "type": "integer"
    }
  },
  "required": [
    "query"
  ],
  "type": "object"
}

Examples (1)

Default MyVariant Query Variants call

public-safeinput

{
  "query": "BRCA1",
  "size": 1
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_MyVariant_query_variants
Tool name: MyVariant_query_variants
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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