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TheGA4GHVariation Representation Specificationprovides a comprehensive framework for the computational representation of biological sequencevariation. VRS is the result of a collaboration amongcontributors representingnational information resource providers, major international public initiatives, and diagnostictesting laboratories.

VRS is licensed under theApache License 2.0.

NOTE: VRS is under active development.See theVRS Project Roadmap.

• Develop common language- and protocol-neutral information models and nomenclature forbiological sequence variation.
• From the information models, develop data schemas. The current schema is defined inJSON Schema, but other formats are expected.
• Provide algorithmic guidance and conventions to minimize representational ambiguity.
• Define a globally uniquecomputed identifier for covered data classes.
• Developvalidation tests to ensure consistency of implementations.

The VRS model is the product of theGA4GH Variation Representation group.

SEE ALSO: SeeVRS-Python for a Pythonimplementation and Jupyter notebooks.

The schema is available in theschema/ directory, in both yaml and json versions.It conforms to JSON Schema Draft 2020-12. For a list oflibraries that support JSON schema, seeJSONSchema>Tools.

Fork the repo athttps://github.com/ga4gh/vrs.

git clone --recurse-submodules git@github.com:YOUR_GITHUB_ID/vrs.gitcd vrsmake devreadysource venv/3.12/bin/activatepre-commit install

If you already cloned the repo, but forgot to include--recurse-submodules you can run:

git submodule update --init --recursive

VRS usesvrs-source.yaml as the source document for JSON Schema.

To create the corresponding def and json files after making changes to the source document, from the root directory:

cd schemamake all

Note: We have a custom pre-commit hook to run these commands after you stage a sourcedocument

The VRS specification documentation is written in reStructuredText and located indocs/source. Commits to this repo are built automatically athttps://vrs.ga4gh.org.

To build documentation locally, you must installentr:

brew install entr

Then from the root directory:

cd docsmake clean watch &

Then, opendocs/build/html/index.html. The above makecommand should build docs when source changes. (Some types of changes require recleaning and building.)

The VRS repo contains two kinds of tests. Basic smoke tests intests/ ensure that theschema is parsable and works with certain tools. These tests provide a basic sanitycheck during development.

Validation tests (invalidation/) provide language-neutral tests for those implementingtools with VRS.

To run the smoke tests:

make test