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Research tool·genomics·vep_pathogenicity
VEP Predict Pathogenicity
Predict missense variant pathogenicity via the Ensembl VEP REST API with AlphaMissense (DeepMind 2023) + SIFT + PolyPhen-2 per transcript, in one call. Provide ONE of: a dbSNP rsID ('rsid'), HGVS notation ('hgvs_notation'), or a genomic locus ('chrom'+'pos'+'alt'). Returns per-transcript predictions (gene, amino_acids, alphamissense_class/score, sift, polyphen, most_severe_consequence). No API key.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 48 lines · 958 chars
Examples (1)
Default VEP Predict Pathogenicity call
public-safeinput
JSON · 6 lines · 99 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_VEP_predict_pathogenicity
- Tool name
- VEP_predict_pathogenicity
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse