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Search Variant Annotation , found 4 results

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ClinVar Variant Explorer

clinvar-database

K-Dense-AI/claude-scientific-skills

Query NCBI ClinVar for variant clinical significance, mixing gene/condition searches, API/FTP downloads, and VCF annotations to support genomic medicine interpretation workflows.

Ensembl Genome API

ensembl-database

K-Dense-AI/claude-scientific-skills

Query Ensembl’s RESTful API to access gene annotations, sequences, variants, orthologs, and assembly mappings across 250+ species, enabling integration into genomic research pipelines.

GnomAD Variant Lookup

gnomad-database

K-Dense-AI/claude-scientific-skills

Query gnomAD via GraphQL to retrieve allele frequencies, constraint scores, and loss-of-function annotations for population-informed variant interpretation and rare disease gene prioritization.

Query 1000 Genomes Individual Genomics Data

K-Dense-AI/scientific-agent-skills

This skill provides querying capabilities for the 1000 Genomes Project dataset, covering 3,202 whole-genome-sequenced individuals on the GRCh38 assembly. It allows users to identify variants within a region, find specific individuals who carry defined genetic variants, or determine the relatedness between two named individuals. Results include allele frequencies (AF), AlphaMissense scores, and various clinical annotations. Use this tool for advanced genomic cohort analysis.

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