← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-117204287-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117204287&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117204287,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003186.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "NM_003186.5",
"protein_id": "NP_003177.2",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392951.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003186.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000392951.9",
"protein_id": "ENSP00000376678.4",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003186.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392951.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000278968.10",
"protein_id": "ENSP00000278968.6",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278968.10"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000530649.5",
"protein_id": "ENSP00000431941.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530649.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000532870.5",
"protein_id": "ENSP00000432282.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532870.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "n.2825G>T",
"hgvs_p": null,
"transcript": "ENST00000533863.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533863.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Gln187His",
"transcript": "ENST00000943139.1",
"protein_id": "ENSP00000613198.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 210,
"cds_start": 561,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943139.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Gln187His",
"transcript": "ENST00000943144.1",
"protein_id": "ENSP00000613203.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 210,
"cds_start": 561,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943144.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.561G>T",
"hgvs_p": "p.Gln187His",
"transcript": "ENST00000943148.1",
"protein_id": "ENSP00000613207.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 210,
"cds_start": 561,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943148.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "NM_001001522.2",
"protein_id": "NP_001001522.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001522.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000525531.5",
"protein_id": "ENSP00000432054.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525531.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902402.1",
"protein_id": "ENSP00000572461.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902402.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902403.1",
"protein_id": "ENSP00000572462.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902403.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902404.1",
"protein_id": "ENSP00000572463.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902404.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902406.1",
"protein_id": "ENSP00000572465.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902406.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902407.1",
"protein_id": "ENSP00000572466.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902407.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902409.1",
"protein_id": "ENSP00000572468.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902409.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902410.1",
"protein_id": "ENSP00000572469.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902410.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902411.1",
"protein_id": "ENSP00000572470.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902411.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000902412.1",
"protein_id": "ENSP00000572471.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902412.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000931919.1",
"protein_id": "ENSP00000601978.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931919.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000931921.1",
"protein_id": "ENSP00000601980.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931921.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000931922.1",
"protein_id": "ENSP00000601981.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931922.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000931923.1",
"protein_id": "ENSP00000601982.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931923.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943133.1",
"protein_id": "ENSP00000613192.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943133.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943134.1",
"protein_id": "ENSP00000613193.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943134.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943136.1",
"protein_id": "ENSP00000613195.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943136.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943138.1",
"protein_id": "ENSP00000613197.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943138.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943140.1",
"protein_id": "ENSP00000613199.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943140.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943141.1",
"protein_id": "ENSP00000613200.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943141.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943142.1",
"protein_id": "ENSP00000613201.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943142.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943143.1",
"protein_id": "ENSP00000613202.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943143.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943145.1",
"protein_id": "ENSP00000613204.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943145.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943146.1",
"protein_id": "ENSP00000613205.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943146.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943147.1",
"protein_id": "ENSP00000613206.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943147.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943149.1",
"protein_id": "ENSP00000613208.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943149.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943150.1",
"protein_id": "ENSP00000613209.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943150.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943151.1",
"protein_id": "ENSP00000613210.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943151.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943152.1",
"protein_id": "ENSP00000613211.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943152.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943153.1",
"protein_id": "ENSP00000613212.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943153.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943154.1",
"protein_id": "ENSP00000613213.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943154.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943155.1",
"protein_id": "ENSP00000613214.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943155.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943156.1",
"protein_id": "ENSP00000613215.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943156.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943157.1",
"protein_id": "ENSP00000613216.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943157.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His",
"transcript": "ENST00000943158.1",
"protein_id": "ENSP00000613217.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 201,
"cds_start": 534,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943158.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Gln177His",
"transcript": "ENST00000943135.1",
"protein_id": "ENSP00000613194.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 200,
"cds_start": 531,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943135.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.528G>T",
"hgvs_p": "p.Gln176His",
"transcript": "ENST00000931920.1",
"protein_id": "ENSP00000601979.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 199,
"cds_start": 528,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931920.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.519G>T",
"hgvs_p": "p.Gln173His",
"transcript": "ENST00000943137.1",
"protein_id": "ENSP00000613196.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 196,
"cds_start": 519,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943137.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Gln149His",
"transcript": "ENST00000902408.1",
"protein_id": "ENSP00000572467.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 172,
"cds_start": 447,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902408.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.444G>T",
"hgvs_p": "p.Gln148His",
"transcript": "ENST00000902405.1",
"protein_id": "ENSP00000572464.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 171,
"cds_start": 444,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902405.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"hgvs_c": "c.381G>T",
"hgvs_p": "p.Gln127His",
"transcript": "ENST00000529622.1",
"protein_id": "ENSP00000432380.1",
"transcript_support_level": 3,
"aa_start": 127,
"aa_end": null,
"aa_length": 150,
"cds_start": 381,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529622.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1710C>A",
"hgvs_p": null,
"transcript": "NM_004716.4",
"protein_id": "NP_004707.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320934.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004716.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1710C>A",
"hgvs_p": null,
"transcript": "ENST00000320934.8",
"protein_id": "ENSP00000325917.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004716.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320934.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK7",
"gene_hgnc_id": 8748,
"hgvs_c": "c.*1710C>A",
"hgvs_p": null,
"transcript": "XM_006718940.5",
"protein_id": "XP_006719003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718940.5"
}
],
"gene_symbol": "TAGLN",
"gene_hgnc_id": 11553,
"dbsnp": "rs143022570",
"frequency_reference_population": 0.00021805495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 352,
"gnomad_exomes_af": 0.000208633,
"gnomad_genomes_af": 0.000308443,
"gnomad_exomes_ac": 305,
"gnomad_genomes_ac": 47,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8207573294639587,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.847,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9948,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.533,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003186.5",
"gene_symbol": "TAGLN",
"hgnc_id": 11553,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Gln178His"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004716.4",
"gene_symbol": "PCSK7",
"hgnc_id": 8748,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1710C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}