HGVS Nomenclature

[Carolk]

Greetings HGVS members,

I am looking for some guidance on how I can access the human readable HGVS nomenclature tables.

I am working on presenting the content as a terminology taxonomy.

Best regards,

Carol K.

c474...@gmail.com

[Reece Hart]

Hi Carol-

I do not understand what you're asking for or trying to achieve.

The source code for the website is available at https://github.com/HGVSnomenclature/hgvs-nomenclature/. You or a member of your technical support team can likely derive what you need from that.

-Reece

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[Carolk]

Thanks Reece for the prompt response. I was able to use the current stable release from github and generate ~700 HGVS nomenclature examples. 

However, I am uncertain if there is "an approved list" of the nomenclature expressions.

Thanks,

Carol.

[Reece Hart]

Carol -

You haven't described what you're actually trying to achieve other than a list of variant expressions. If you want  a list, you can download variants from lots of places including NCBI.

The paper describes that we are in the process of converting human readable descriptions of variant representation into a formal grammar.

The file syntax.yaml variants that we use as examples. That is probably the closest we can offer you. 

-Reece 

On Tue, Feb 24, 2026, 14:40 Carolk <c474...@gmail.com> wrote:

Thanks Reece for the prompt response. I have looked at the github source code and was able to generate ~700 variant examples. 

I am however uncertain at to whether there is a downloadable list of HGVS Nomenclature variant expressions.

Thanks,

Carol.

On Monday, February 23, 2026 at 11:32:40 AM UTC-6 re...@harts.net wrote:

[Carolk]

My apologies. I am trying to add this content to a terminology management tool and perhaps map it to other references in the future. 

Thanks,

Carol.

[Carolk]

My apologies. I am trying to add the variant list to a terminology service and possibly map it to other standards in the future.

On Wednesday, February 25, 2026 at 6:13:22 AM UTC-6 re...@harts.net wrote:

[Fokkema, Ivo (HG - LUMC)]

Dear Carol,

Perhaps relevant to your use case: the HGVS Nomenclature website also
contains examples marked as invalid ("what not to do"), examples of
previous Nomenclature ("how we used to do this"), and examples of
proposed nomenclature ("perhaps we should add something like this")
that is not part of the official Nomenclature. Therefore, the ~700
variant descriptions you extracted are likely a mix of valid, invalid,
and old Nomenclature. If that is a problem for you, please provide us
with more information on what you're trying to achieve, and we can
perhaps guide you further.

Best regards,

Ivo

[Carolk]

Thank you all for your ongoing support.

I am exploring ways to incorporate HGVS nomenclature into a terminology service for our end users.

We would not be creating nor editing variant expressions ourselves; rather, our end users would be consuming and interpreting HGVS via the interface. I am especially interested in learning where i can source the most up-to-date published HGVS variants file list, best practices for representing, displaying, and validating HGVS expressions in a way that is accurate, standards-aligned, and clear for non-editor users.

I joined this group to learn from others with experience in this area, and I’d appreciate any guidance on implementation considerations for my use case.

Best regards, 

Carol.