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Cortexa research tool·genomics·biothings
MyVariant Get Pathogenicity Scores
Get comprehensive pathogenicity prediction scores for a variant from dbNSFP. Returns REVEL, CADD, AlphaMissense, SIFT, PolyPhen-2, MetaRNN, GERP, PhyloP, and PhastCons scores in a single call. Use this when MyVariant_query_variants does not return dbnsfp data, or when you specifically need REVEL/AlphaMissense scores for ACMG PP3/BP4 classification.
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 17 lines · 817 chars
Examples (1)
Default MyVariant Get Pathogenicity Scores 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_MyVariant_get_pathogenicity_scores
- Tool name
- MyVariant_get_pathogenicity_scores
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse