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feat: Variant Search via VRS Digest#666

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bencap wants to merge 2 commits intorelease-2026.2.1from
feature/bencap/655/variants-search-by-vrs-digest
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feat: Variant Search via VRS Digest#666
bencap wants to merge 2 commits intorelease-2026.2.1from
feature/bencap/655/variants-search-by-vrs-digest

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@bencap bencap commented Apr 30, 2026

This pull request adds support for searching variants in MaveMD using GA4GH VRS identifiers (VRS digests), in addition to existing search types. It updates the UI, search logic, API integration, documentation, and visual styling to fully support and explain VRS-based searches. The most important changes are grouped below.

VRS Digest Search Functionality:

  • Added support for searching by GA4GH VRS identifiers (ga4gh:VA.*, ga4gh:VH.*) throughout the app, including a new search option, backend API integration, and handling of results that may not have a ClinGen Allele ID. [1] [2] [3] [4] [5]

  • Updated the search results UI to handle and display variants found via VRS digest, including cases where the variant is present in MaveDB but not linked to a ClinGen Allele ID, and providing direct links to the relevant score set when appropriate. [1] [2] [3] [4]

UI and Styling Updates:

  • Added a new color scheme for VRS digest searches and ensured consistent button and highlight styling for the new search type across components. [1] [2] [3] [4] [5] [6]

  • Updated the home screen and search screen to include VRS digest as a visible and selectable search option, with appropriate placeholder text and example identifiers. [1] [2] [3]

Documentation Updates:

  • Expanded documentation to describe VRS digest search, including its workflow, use cases, and how it differs from other identifier searches. Added explanations in both the variant search and data standards documentation. [1] [2]

Supporting Utilities and Validation:

  • Added a regular expression for validating VRS digests and a utility function to extract score set URNs from variant URNs, supporting correct linking and validation in the UI and logic. [1] [2]

API Integration:

  • Added a new API function lookupVariantsByVrsDigest to query mapped variants by VRS identifier, and updated type definitions to support the new search results. [1] [2] [3]

These changes together enable users to search for variants using GA4GH VRS identifiers, improving interoperability with GA4GH-compliant pipelines and databases.

bencap added 2 commits April 30, 2026 15:41
- Add `vrsDigest` search tab to MaveMD and the home page hero bar,
  backed by GET /api/v1/mapped-variants/vrs/{identifier} which
  bypasses the ClinGen Allele Registry entirely
- Validate input against the GA4GH VRS format
  (ga4gh:<type>.<32-char base64url digest>) before sending requests
- When the matched MappedVariant has a clingenAlleleId, resolve it
  through ClinGen and display the standard allele results page;
  when absent, surface a direct link to the source score set
- Handle 404 from the VRS endpoint with a specific "not found"
  message rather than the generic error fallback
- Introduce --color-ga4gh / --color-ga4gh-light CSS variables and
  use white active-state text for contrast on the darker blue;
  extend SEARCH_COLORS with an optional activeText field consumed
  by search tabs and the Search button on both screens
- Document VRS identifier search in mavemd/variant-search.md and
  cross-reference from reference/data-standards.md
@bencap bencap requested review from jstone-dev and sallybg April 30, 2026 22:46
@bencap bencap linked an issue Apr 30, 2026 that may be closed by this pull request
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Support variant search by VRS digest

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