FAVOR Annotate Variant
Comprehensive functional annotation of a single GRCh38 variant via FAVOR (Functional Annotation of Variants Online Resource, Harvard). One call returns: allele frequencies (BRAVO/TOPMed, gnomAD by ancestry, 1000 Genomes), gene and consequence (GENCODE category, exonic effect, protein variant, HGVS), deleteriousness scores (CADD, SIFT, PolyPhen-2, AlphaMissense, MetaSVM, MutationTaster/Assessor, FATHMM-XF, Grantham, LINSIGHT, FunSeq), conservation (GERP, phyloP mammalian/primate/vertebrate, phas…
Overview
Comprehensive functional annotation of a single GRCh38 variant via FAVOR (Functional Annotation of Variants Online Resource, Harvard). One call returns: allele frequencies (BRAVO/TOPMed, gnomAD by ancestry, 1000 Genomes), gene and consequence (GENCODE category, exonic effect, protein variant, HGVS), deleteriousness scores (CADD, SIFT, PolyPhen-2, AlphaMissense, MetaSVM, MutationTaster/Assessor, FATHMM-XF, Grantham, LINSIGHT, FunSeq), conservation (GERP, phyloP mammalian/primate/vertebrate, phastCons), ClinVar clinical significance/disease, and regulatory/epigenomic context (CAGE promoter/enhancer, GeneHancer, ENCODE DNase, ReMap TF overlap). Use for variant interpretation across both coding and non-coding regions in one step. Input is a GRCh38 (hg38) coordinate string; resolve rsIDs to GRCh38 coordinates first if needed. No API key required.
Schema
JSON Schema the agent (or your API call) must match.
Examples (1)
Default FAVOR Annotate Variant call
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_FAVOR_annotate_variant
- Tool name
- FAVOR_annotate_variant
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse