LHC-Forms

The HGVS Expression Validator

This HGVS validator can be used to validate HGVS expressions, and the results may optionally include NCBI's SPDI (Sequence Position Deletion Insertion) if available. The validation may have 3 possible outcomes:

Valid, if the HGVS expression is valid
Invalid, if the HGVS expression is invalid
Unknown, if the validity of the HGVS expression could not be determined, for example, due to system limitations or errors

Behind the scenes, this validator is powered by the LHC FHIR API for HGVS Validation and Lookup, which, in turn, is backed by the NCBI's Variation Service with the Mutalyzer as a fall back when NCBI's Variation service couldn't decide the validity of the given HGVS expression. The NCBI's variation service is used to translate the HGVS expression into SPDI if possible.

There are two ways to use this validator: use the interactive user interface for checking individual HGVS expressions or use the LHC FHIR API for HGVS Validation and Lookup from your applications. The interactive user interface is backed by the service API.

HGVS Expression Validation


HGVS to Validate:	(e.g., NM_001127897.4:c.3642A>G)
	Include SPDI in results (if available)

Validation Result:
SPDI Result:

The LHC FHIR API for HGVS Validation and Lookup

The LHC FHIR API for HGVS Validation and Lookup supports two FHIR operations for HGVS expressions: the $validate-code operation for HGVS expression validation and the $lookup operation that currently only returns NCBI's SPDI (Sequence Position Deletion Insertion) string if available. For more details, please refer to the API's documentation.