← 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: 5-57230957-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=57230957&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 57230957,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001331037.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "NM_022913.4",
"protein_id": "NP_075064.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000506184.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022913.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000506184.7",
"protein_id": "ENSP00000421202.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022913.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506184.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000264779.6",
"protein_id": "ENSP00000264779.6",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 480,
"cds_start": 196,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264779.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.-339C>T",
"hgvs_p": null,
"transcript": "ENST00000514387.6",
"protein_id": "ENSP00000421709.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514387.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "NM_001331037.2",
"protein_id": "NP_001317966.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 493,
"cds_start": 175,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331037.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000424459.7",
"protein_id": "ENSP00000401596.2",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 493,
"cds_start": 175,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424459.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000899293.1",
"protein_id": "ENSP00000569352.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 485,
"cds_start": 196,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899293.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000899297.1",
"protein_id": "ENSP00000569356.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 485,
"cds_start": 196,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899297.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000952544.1",
"protein_id": "ENSP00000622603.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 485,
"cds_start": 196,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952544.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_001127236.2",
"protein_id": "NP_001120708.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 480,
"cds_start": 196,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127236.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899292.1",
"protein_id": "ENSP00000569351.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 175,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899292.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935647.1",
"protein_id": "ENSP00000605706.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 175,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935647.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935648.1",
"protein_id": "ENSP00000605707.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 175,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935648.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899283.1",
"protein_id": "ENSP00000569342.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899283.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899284.1",
"protein_id": "ENSP00000569343.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899284.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899286.1",
"protein_id": "ENSP00000569345.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899286.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899287.1",
"protein_id": "ENSP00000569346.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899287.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899289.1",
"protein_id": "ENSP00000569348.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899289.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899290.1",
"protein_id": "ENSP00000569349.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899290.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899291.1",
"protein_id": "ENSP00000569350.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899291.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899295.1",
"protein_id": "ENSP00000569354.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899295.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899298.1",
"protein_id": "ENSP00000569357.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899298.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899300.1",
"protein_id": "ENSP00000569359.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899300.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899302.1",
"protein_id": "ENSP00000569361.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899302.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899303.1",
"protein_id": "ENSP00000569362.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899303.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899304.1",
"protein_id": "ENSP00000569363.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899304.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899305.1",
"protein_id": "ENSP00000569364.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899305.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935644.1",
"protein_id": "ENSP00000605703.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935644.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935645.1",
"protein_id": "ENSP00000605704.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935645.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935646.1",
"protein_id": "ENSP00000605705.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935646.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935650.1",
"protein_id": "ENSP00000605709.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935650.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935651.1",
"protein_id": "ENSP00000605710.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935651.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935652.1",
"protein_id": "ENSP00000605711.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935652.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935653.1",
"protein_id": "ENSP00000605712.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935653.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000952538.1",
"protein_id": "ENSP00000622597.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952538.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000952543.1",
"protein_id": "ENSP00000622602.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952543.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000952547.1",
"protein_id": "ENSP00000622606.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 473,
"cds_start": 175,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952547.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000952545.1",
"protein_id": "ENSP00000622604.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 471,
"cds_start": 175,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952545.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_001127235.2",
"protein_id": "NP_001120707.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 465,
"cds_start": 196,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127235.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000511209.5",
"protein_id": "ENSP00000422337.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 465,
"cds_start": 196,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511209.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000952539.1",
"protein_id": "ENSP00000622598.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 465,
"cds_start": 196,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952539.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899288.1",
"protein_id": "ENSP00000569347.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 458,
"cds_start": 175,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899288.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899296.1",
"protein_id": "ENSP00000569355.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 458,
"cds_start": 175,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899296.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899299.1",
"protein_id": "ENSP00000569358.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 458,
"cds_start": 175,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899299.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899301.1",
"protein_id": "ENSP00000569360.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 458,
"cds_start": 175,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899301.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000935649.1",
"protein_id": "ENSP00000605708.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 458,
"cds_start": 175,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935649.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000952540.1",
"protein_id": "ENSP00000622599.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 458,
"cds_start": 175,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952540.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000952542.1",
"protein_id": "ENSP00000622601.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 458,
"cds_start": 175,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952542.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000952546.1",
"protein_id": "ENSP00000622605.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 458,
"cds_start": 175,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952546.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899285.1",
"protein_id": "ENSP00000569344.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 457,
"cds_start": 175,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899285.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899294.1",
"protein_id": "ENSP00000569353.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 457,
"cds_start": 175,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899294.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000899306.1",
"protein_id": "ENSP00000569365.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 457,
"cds_start": 175,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899306.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"transcript": "ENST00000952541.1",
"protein_id": "ENSP00000622600.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 376,
"cds_start": 175,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"hgvs_c": "c.-339C>T",
"hgvs_p": null,
"transcript": "NM_001203246.2",
"protein_id": "NP_001190175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001203246.2"
}
],
"gene_symbol": "GPBP1",
"gene_hgnc_id": 29520,
"dbsnp": "rs775619360",
"frequency_reference_population": 0.000050401406,
"hom_count_reference_population": 0,
"allele_count_reference_population": 81,
"gnomad_exomes_af": 0.00005154,
"gnomad_genomes_af": 0.000039495,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16175445914268494,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.1366,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.403,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001331037.2",
"gene_symbol": "GPBP1",
"hgnc_id": 29520,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys"
}
],
"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
}