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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.

AvailableCortexa

Schema

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

JSON · 22 lines · 563 chars

Examples (1)

Default EVA Get Variants By Gene call

public-safeinput
JSON · 4 lines · 35 chars
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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