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Sometimes rest VV returns results unrelated to query #74

@vidboda

Description

@vidboda

Sometimes, but quite often indeed, VV returns results that are totally unrelated from the initial query.

For example, today I submitted this query using the swagger UI at https://rest.variantvalidator.org/:

https://rest.variantvalidator.org/VariantValidator/variantvalidator/**hg19**/**15**-43921089-C-T/all?content-type=application%2Fjson

and got as results a variant located on chr12:

"selected_assembly": "GRCh38",
"submitted_variant": "NM_015409.5:c.4421C>T",
"transcript_description": "Homo sapiens E1A binding protein p400 (EP400), mRNA",
"validation_warnings": [
"RefSeqGene record not available"
],
"variant_exonic_positions": {
"NC_000012.11": {
"end_exon": "22",
"start_exon": "22"
},
"NC_000012.12": {
"end_exon": "22",
"start_exon": "22"
}
}

Other examples seen today returned by MobiDetails (still using the REST API):

  • VV check failed for variant NM_015454.3:c.-2-243G>A with args: {'NM_003104.5:c.927G>A': {...} which means the user tried to validate a variant lying on gene LARP7 on chr4 and got results for a variant lying in gene SORD on chr15. (15h23)
  • VV check failed for variant NM_002735.3:c.253A>C with args: {'NM_001330609.1:c.203C>T': {...} : variant asked on PRKAR1B on chr7 and results for WASHC5 on chr8 (15h06)

The error seems to occur whatever the select assembly is (hg19, hg38, GRCh37, GRCh38).

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