Cortexa research tool·genomics·eva

EVA Get Variants By Gene

Get genetic variants from the European Variation Archive (EVA) for a specific gene. EVA is hosted at EBI and aggregates variant data from multiple studies including ClinVar, dbSNP, and population sequencing projects. Returns variants with allele frequencies, study sources, and variant type. The gene name uses HGNC symbols (e.g., 'BRCA1', 'TP53', 'EGFR'). Species defaults to human GRCh38.

Livelast probed 2026-04-30 23:07Z· 114msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 114ms

Schema

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

{
  "properties": {
    "gene": {
      "description": "Gene symbol (HGNC format, e.g., 'BRCA1', 'TP53', 'EGFR', 'BRCA2', 'APOE')",
      "type": "string"
    },
    "limit": {
      "default": 20,
      "description": "Maximum number of variants to return (default 20, max ~1000)",
      "type": "integer"
    },
    "species": {
      "default": "hsapiens_grch38",
      "description": "Species and assembly (e.g., 'hsapiens_grch38', 'hsapiens_grch37', 'mmusculus_grcm38')",
      "type": "string"
    }
  },
  "required": [
    "gene"
  ],
  "type": "object"
}

Examples (1)

Default EVA Get Variants By Gene call

public-safeinput

{
  "gene": "BRCA1",
  "limit": 3
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_EVA_get_variants_by_gene
Tool name: EVA_get_variants_by_gene
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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