ga4gh-vrs skill

Qualified idsusheel/ga4gh-plugins@0.1.0-rc.5

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

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Overview

Bundled Claude Code / MCP skill for GA4GH Variation Representation Specification (VRS), shipped alongside the 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

Publisher

Published by
Susheel Varma (GitHub user) profile ↗
Upstream name
ga4gh-plugins
Upstream version
0.1.0-rc.5 (Git tag)
Version date

Safety classification

No safety classification has been submitted for this entry.

What the safety levels mean

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
Updated
Last verified