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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
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