varfish-org / varfish-server

VarFish: comprehensive DNA variant analysis for diagnostics and research
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Variant Details not working #1509

Closed flokraft85 closed 7 months ago

flokraft85 commented 7 months ago

Describe the bug After docker compose pull && docker compose up -d, to update to the lastest version, the Variant Details page only showing.

No Gene No Variant Information

It is the same for every SNV/InDel variant. For SV variants the details page work as expected.

To Reproduce Steps to reproduce the behavior:

  1. open a case
  2. click on filter variants
  3. click on a variant to open the Variant Details page
  4. Variant Details page show only No Gene No Variant Information

Expected behavior Variant Details page should show the annotation details for s specific variant.

Screenshots grafik

Desktop (please complete the following information):

flokraft85 commented 7 months ago

There is maybe some error in the variant position "tranfer" from the "table" to the variant details page. When I try to use the IGV linkout, I got the following position in IGV "chrundefined:undefined-0". I'm not sure, if this is helpful, but maybe.

stolpeo commented 7 months ago

RCA

Had a VC with @flokraft85 . There seems to be an issue if the data uploaded already has a chr prefix in the chromosome field which causes the annonars call to fail:

proxy/varfish/annonars/annos/variant?genome_release=grch38&chromosome=chrchr1&pos=1234&reference=G&alternative=A

In addition, when HPO terms are provided, the call to viguno does not contain the list of HPO terms but just a true value. This very likely should be a list:

proxy/varfish/viguno/hpo/genes?gene_id=HGNC:1234&hpo_terms=true
stolpeo commented 7 months ago

RCA annonars

bug lies within REEV. opening a new ticket there.

stolpeo commented 7 months ago

&hpo_terms=true is actually the correct call. Could reconstruct the issue locally.