ensembl_consequence
Predict the functional consequences of any genetic variant, including novel variants and non-human species, using Ensembl VEP. Returns most severe effect and per-transcript details.
Instructions
Predict the functional consequence of a variant on demand via Ensembl VEP — works even for NOVEL variants absent from every database, and for non-human species.
Input forms: HGVS c./p./g. notation ("NM_004333:c.1799T>A", "ENST00000288602:c.1799T>A") or a dbSNP rsID ("rs113488060"). Prefer HGVS over rsIDs when both are available — rsIDs are resolved through dbSNP's coordinate mapping, which can yield less specific consequences. Returns the most severe consequence plus per-transcript effects (impact, codon/amino-acid change, SIFT/PolyPhen where available) and co-located known variants (ClinVar/COSMIC IDs, gnomAD/1000G frequencies when present). For KNOWN human variants, variant_get additionally provides deep pre-computed scores (CADD, REVEL, AlphaMissense, ClinVar stars) — prefer it there.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| limit | No | Max transcript consequences returned (sorted by impact severity) | |
| species | No | Species — 'human' (default), 'mouse', … | human |
| variant | Yes | HGVS notation (NM_004333:c.1799T>A) or dbSNP rsID (rs113488060) |