ga4gh-vrs skill
Normalize a genomic variation expression (HGVS, gnomAD VCF, or free-text) against a configured GA4GH Variation Representation Specification (VRS) normalization service and return the normalized VRS va
Overview
Bundled Claude Code / MCP skill for GA4GH Variation Representation Specification (VRS), shipped alongside the `@deepseek-ai/dsh-ga4gh-vrs` Cordis plugin and standalone MCP server in the `ga4gh-plugins` monorepo. Normalize a genomic variation expression (HGVS, gnomAD VCF, or free-text) against a configured GA4GH Variation Representation Specification (VRS) normalization service and return the normalized VRS variation object. Use when the user asks to normalize a variant description, convert a variant to VRS form, or work with the GA4GH VRS standard for computational variant representation.
Details
- Licence
- MIT
- Version
- 0.1.0-rc.5
- Category
- Variant interpretation
- Homepage
- https://github.com/susheel/ga4gh-plugins/tree/main/packages/vrs
- Repository
- https://github.com/susheel/ga4gh-plugins
- Maintainers
- Susheel Varma (@susheel, GA4GH AI Workstream / Sage Bionetworks)
- Keywords
- ga4ghvrscordis-pluginmcp-server
- GA4GH standards
- vrs
Safety classification
No safety classification has been submitted for this entry.
Skill
- Human oversight
- recommended
- Provenance logging
- No
- Evaluation criteria
- https://github.com/susheel/ga4gh-plugins/blob/main/packages/vrs/EVALUATION-CRITERIA.md
- Source
- https://github.com/susheel/ga4gh-plugins.git (packages/vrs)
Inputs
- endpoint_url (string) — Base URL of the configured endpoint to query.
- query_parameters (object) — Standard-specific filter, search, or lookup parameters; see the skill's own tool table.
Outputs
- result (object) — Structured response from the queried endpoint, per the standard's own schema, unmodified.
Provenance
- Created
- 2026-09-04T11:00:07.663Z
- Updated
- 2026-09-04T11:00:07.663Z
- Last verified
- 2026-09-04T11:00:07.663Z