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Cortexa research tool·genomics·ensembl_variation_ext
EnsemblVar Get Variant Consequences
Get detailed variant information including consequence type, clinical significance, synonyms, evidence attributes, and allele mappings from Ensembl. More comprehensive than VEP - returns the full variant record with all known synonyms, mapped positions, ancestral allele, and minor allele data. Example: rs429358 returns most_severe_consequence='missense_variant', 27 synonyms, mapped to chr19:44908684 (GRCh38), and is classified as a missense_variant affecting APOE.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 16 lines · 384 chars
Examples (1)
Default EnsemblVar Get Variant Consequences call
public-safeinput
JSON · 3 lines · 22 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_EnsemblVar_get_variant_consequences
- Tool name
- EnsemblVar_get_variant_consequences
- Added
- 2026-05-01 00:58Z
- Tags
- tooluniverse