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.
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Examples (1)
Default FAVOR Annotate Variant call
Public-safe example · rate-limited
Identifiers
- Catalog ID
- tu_FAVOR_annotate_variant
- Tool name
- FAVOR_annotate_variant
- Added
- 2026-07-29 18:13Z
- Tags
- tooluniverse