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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