← 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: 3-121696873-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121696873&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121696873,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000614479.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys",
"transcript": "NM_001366282.2",
"protein_id": "NP_001353211.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 3264,
"cds_start": 3650,
"cds_end": null,
"cds_length": 9795,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 11186,
"mane_select": "ENST00000614479.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys",
"transcript": "ENST00000614479.5",
"protein_id": "ENSP00000484083.2",
"transcript_support_level": 1,
"aa_start": 1217,
"aa_end": null,
"aa_length": 3264,
"cds_start": 3650,
"cds_end": null,
"cds_length": 9795,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 11186,
"mane_select": "NM_001366282.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys",
"transcript": "ENST00000393667.8",
"protein_id": "ENSP00000377275.3",
"transcript_support_level": 1,
"aa_start": 1217,
"aa_end": null,
"aa_length": 3269,
"cds_start": 3650,
"cds_end": null,
"cds_length": 9810,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 11199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3635A>G",
"hgvs_p": "p.Tyr1212Cys",
"transcript": "ENST00000340645.10",
"protein_id": "ENSP00000341848.5",
"transcript_support_level": 1,
"aa_start": 1212,
"aa_end": null,
"aa_length": 3259,
"cds_start": 3635,
"cds_end": null,
"cds_length": 9780,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 11199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3527A>G",
"hgvs_p": "p.Tyr1176Cys",
"transcript": "ENST00000494517.6",
"protein_id": "ENSP00000418231.2",
"transcript_support_level": 1,
"aa_start": 1176,
"aa_end": null,
"aa_length": 3223,
"cds_start": 3527,
"cds_end": null,
"cds_length": 9672,
"cdna_start": 3639,
"cdna_end": null,
"cdna_length": 10128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.*3558A>G",
"hgvs_p": null,
"transcript": "ENST00000482512.6",
"protein_id": "ENSP00000419519.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.*3558A>G",
"hgvs_p": null,
"transcript": "ENST00000482512.6",
"protein_id": "ENSP00000419519.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys",
"transcript": "NM_001256486.2",
"protein_id": "NP_001243415.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 3269,
"cds_start": 3650,
"cds_end": null,
"cds_length": 9810,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 11201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3635A>G",
"hgvs_p": "p.Tyr1212Cys",
"transcript": "NM_004487.5",
"protein_id": "NP_004478.3",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 3259,
"cds_start": 3635,
"cds_end": null,
"cds_length": 9780,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 11171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3533A>G",
"hgvs_p": "p.Tyr1178Cys",
"transcript": "NM_001256487.2",
"protein_id": "NP_001243416.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 3225,
"cds_start": 3533,
"cds_end": null,
"cds_length": 9678,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 11214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3515A>G",
"hgvs_p": "p.Tyr1172Cys",
"transcript": "NM_001389631.1",
"protein_id": "NP_001376560.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 3224,
"cds_start": 3515,
"cds_end": null,
"cds_length": 9675,
"cdna_start": 3772,
"cdna_end": null,
"cdna_length": 11211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3527A>G",
"hgvs_p": "p.Tyr1176Cys",
"transcript": "NM_001366283.2",
"protein_id": "NP_001353212.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 3223,
"cds_start": 3527,
"cds_end": null,
"cds_length": 9672,
"cdna_start": 3639,
"cdna_end": null,
"cdna_length": 11063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3410A>G",
"hgvs_p": "p.Tyr1137Cys",
"transcript": "NM_001366284.2",
"protein_id": "NP_001353213.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 3189,
"cds_start": 3410,
"cds_end": null,
"cds_length": 9570,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 11106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3410A>G",
"hgvs_p": "p.Tyr1137Cys",
"transcript": "NM_001256488.2",
"protein_id": "NP_001243417.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 3184,
"cds_start": 3410,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 11091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3635A>G",
"hgvs_p": "p.Tyr1212Cys",
"transcript": "ENST00000472475.2",
"protein_id": "ENSP00000417695.2",
"transcript_support_level": 3,
"aa_start": 1212,
"aa_end": null,
"aa_length": 3101,
"cds_start": 3635,
"cds_end": null,
"cds_length": 9306,
"cdna_start": 3800,
"cdna_end": null,
"cdna_length": 9471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "ENST00000694958.1",
"protein_id": "ENSP00000511618.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 3100,
"cds_start": 3632,
"cds_end": null,
"cds_length": 9303,
"cdna_start": 3869,
"cdna_end": null,
"cdna_length": 9540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "ENST00000695017.1",
"protein_id": "ENSP00000511648.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 3100,
"cds_start": 3632,
"cds_end": null,
"cds_length": 9303,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 9984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3533A>G",
"hgvs_p": "p.Tyr1178Cys",
"transcript": "ENST00000695037.1",
"protein_id": "ENSP00000511658.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 3067,
"cds_start": 3533,
"cds_end": null,
"cds_length": 9204,
"cdna_start": 3535,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3527A>G",
"hgvs_p": "p.Tyr1176Cys",
"transcript": "ENST00000695008.1",
"protein_id": "ENSP00000511640.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 3065,
"cds_start": 3527,
"cds_end": null,
"cds_length": 9198,
"cdna_start": 3981,
"cdna_end": null,
"cdna_length": 9652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3410A>G",
"hgvs_p": "p.Tyr1137Cys",
"transcript": "ENST00000489400.2",
"protein_id": "ENSP00000417767.2",
"transcript_support_level": 2,
"aa_start": 1137,
"aa_end": null,
"aa_length": 3026,
"cds_start": 3410,
"cds_end": null,
"cds_length": 9081,
"cdna_start": 3412,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3338A>G",
"hgvs_p": "p.Tyr1113Cys",
"transcript": "ENST00000695018.1",
"protein_id": "ENSP00000511649.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 3002,
"cds_start": 3338,
"cds_end": null,
"cds_length": 9009,
"cdna_start": 3450,
"cdna_end": null,
"cdna_length": 9121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Tyr960Cys",
"transcript": "ENST00000694977.1",
"protein_id": "ENSP00000511624.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 2966,
"cds_start": 2879,
"cds_end": null,
"cds_length": 8901,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 9280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Tyr960Cys",
"transcript": "ENST00000694973.1",
"protein_id": "ENSP00000511621.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 2959,
"cds_start": 2879,
"cds_end": null,
"cds_length": 8880,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 10159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Tyr960Cys",
"transcript": "ENST00000695036.1",
"protein_id": "ENSP00000511657.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 2791,
"cds_start": 2879,
"cds_end": null,
"cds_length": 8376,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 8747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys",
"transcript": "XM_005247371.5",
"protein_id": "XP_005247428.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 3269,
"cds_start": 3650,
"cds_end": null,
"cds_length": 9810,
"cdna_start": 4384,
"cdna_end": null,
"cdna_length": 11823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys",
"transcript": "XM_011512699.4",
"protein_id": "XP_011511001.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 3269,
"cds_start": 3650,
"cds_end": null,
"cds_length": 9810,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 11212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3635A>G",
"hgvs_p": "p.Tyr1212Cys",
"transcript": "XM_006713588.3",
"protein_id": "XP_006713651.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 3264,
"cds_start": 3635,
"cds_end": null,
"cds_length": 9795,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 11186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3635A>G",
"hgvs_p": "p.Tyr1212Cys",
"transcript": "XM_017006189.2",
"protein_id": "XP_016861678.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 3264,
"cds_start": 3635,
"cds_end": null,
"cds_length": 9795,
"cdna_start": 4369,
"cdna_end": null,
"cdna_length": 11808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys",
"transcript": "XM_047447987.1",
"protein_id": "XP_047303943.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 3264,
"cds_start": 3650,
"cds_end": null,
"cds_length": 9795,
"cdna_start": 4384,
"cdna_end": null,
"cdna_length": 11808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3635A>G",
"hgvs_p": "p.Tyr1212Cys",
"transcript": "XM_047447988.1",
"protein_id": "XP_047303944.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 3264,
"cds_start": 3635,
"cds_end": null,
"cds_length": 9795,
"cdna_start": 3758,
"cdna_end": null,
"cdna_length": 11197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "XM_006713589.3",
"protein_id": "XP_006713652.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 3263,
"cds_start": 3632,
"cds_end": null,
"cds_length": 9792,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 11183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "XM_017006190.2",
"protein_id": "XP_016861679.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 3263,
"cds_start": 3632,
"cds_end": null,
"cds_length": 9792,
"cdna_start": 4366,
"cdna_end": null,
"cdna_length": 11805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "XM_047447989.1",
"protein_id": "XP_047303945.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 3263,
"cds_start": 3632,
"cds_end": null,
"cds_length": 9792,
"cdna_start": 3755,
"cdna_end": null,
"cdna_length": 11194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3632A>G",
"hgvs_p": "p.Tyr1211Cys",
"transcript": "XM_047447990.1",
"protein_id": "XP_047303946.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 3258,
"cds_start": 3632,
"cds_end": null,
"cds_length": 9777,
"cdna_start": 3744,
"cdna_end": null,
"cdna_length": 11168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3533A>G",
"hgvs_p": "p.Tyr1178Cys",
"transcript": "XM_047447991.1",
"protein_id": "XP_047303947.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 3230,
"cds_start": 3533,
"cds_end": null,
"cds_length": 9693,
"cdna_start": 3659,
"cdna_end": null,
"cdna_length": 11098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3527A>G",
"hgvs_p": "p.Tyr1176Cys",
"transcript": "XM_005247373.3",
"protein_id": "XP_005247430.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 3228,
"cds_start": 3527,
"cds_end": null,
"cds_length": 9687,
"cdna_start": 3639,
"cdna_end": null,
"cdna_length": 11078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3527A>G",
"hgvs_p": "p.Tyr1176Cys",
"transcript": "XM_017006191.2",
"protein_id": "XP_016861680.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 3228,
"cds_start": 3527,
"cds_end": null,
"cds_length": 9687,
"cdna_start": 4261,
"cdna_end": null,
"cdna_length": 11700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3527A>G",
"hgvs_p": "p.Tyr1176Cys",
"transcript": "XM_047447992.1",
"protein_id": "XP_047303948.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 3228,
"cds_start": 3527,
"cds_end": null,
"cds_length": 9687,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 11089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3410A>G",
"hgvs_p": "p.Tyr1137Cys",
"transcript": "XM_006713591.3",
"protein_id": "XP_006713654.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 3189,
"cds_start": 3410,
"cds_end": null,
"cds_length": 9570,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 10961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3410A>G",
"hgvs_p": "p.Tyr1137Cys",
"transcript": "XM_047447993.1",
"protein_id": "XP_047303949.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 3189,
"cds_start": 3410,
"cds_end": null,
"cds_length": 9570,
"cdna_start": 4144,
"cdna_end": null,
"cdna_length": 11583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3410A>G",
"hgvs_p": "p.Tyr1137Cys",
"transcript": "XM_047447994.1",
"protein_id": "XP_047303950.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 3189,
"cds_start": 3410,
"cds_end": null,
"cds_length": 9570,
"cdna_start": 3533,
"cdna_end": null,
"cdna_length": 10972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3410A>G",
"hgvs_p": "p.Tyr1137Cys",
"transcript": "XM_047447995.1",
"protein_id": "XP_047303951.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 3184,
"cds_start": 3410,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 10946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.2891A>G",
"hgvs_p": "p.Tyr964Cys",
"transcript": "XM_017006195.2",
"protein_id": "XP_016861684.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 3016,
"cds_start": 2891,
"cds_end": null,
"cds_length": 9051,
"cdna_start": 3663,
"cdna_end": null,
"cdna_length": 11102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys",
"transcript": "XM_047447996.1",
"protein_id": "XP_047303952.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 2914,
"cds_start": 3650,
"cds_end": null,
"cds_length": 8745,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 8897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2879A>G",
"hgvs_p": null,
"transcript": "ENST00000491690.2",
"protein_id": "ENSP00000420027.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.*3435A>G",
"hgvs_p": null,
"transcript": "ENST00000694957.1",
"protein_id": "ENSP00000511617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2879A>G",
"hgvs_p": null,
"transcript": "ENST00000694974.1",
"protein_id": "ENSP00000511622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2879A>G",
"hgvs_p": null,
"transcript": "ENST00000694979.1",
"protein_id": "ENSP00000511626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.*3435A>G",
"hgvs_p": null,
"transcript": "ENST00000694982.1",
"protein_id": "ENSP00000511627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2879A>G",
"hgvs_p": null,
"transcript": "ENST00000695006.1",
"protein_id": "ENSP00000511639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2664A>G",
"hgvs_p": null,
"transcript": "ENST00000695009.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2879A>G",
"hgvs_p": null,
"transcript": "ENST00000695014.1",
"protein_id": "ENSP00000511645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2879A>G",
"hgvs_p": null,
"transcript": "ENST00000695015.1",
"protein_id": "ENSP00000511646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2764A>G",
"hgvs_p": null,
"transcript": "ENST00000695108.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2879A>G",
"hgvs_p": null,
"transcript": "ENST00000695119.1",
"protein_id": "ENSP00000511708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.2879A>G",
"hgvs_p": null,
"transcript": "ENST00000695120.1",
"protein_id": "ENSP00000511709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.*3435A>G",
"hgvs_p": null,
"transcript": "ENST00000694957.1",
"protein_id": "ENSP00000511617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.*3435A>G",
"hgvs_p": null,
"transcript": "ENST00000694982.1",
"protein_id": "ENSP00000511627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.1396+5608A>G",
"hgvs_p": null,
"transcript": "ENST00000695016.1",
"protein_id": "ENSP00000511647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.*1305-4292A>G",
"hgvs_p": null,
"transcript": "ENST00000695040.1",
"protein_id": "ENSP00000511659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.1051+1828A>G",
"hgvs_p": null,
"transcript": "ENST00000695106.1",
"protein_id": "ENSP00000511697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"hgvs_c": "n.*683-15008A>G",
"hgvs_p": null,
"transcript": "ENST00000695107.1",
"protein_id": "ENSP00000511698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GOLGB1",
"gene_hgnc_id": 4429,
"dbsnp": "rs3732410",
"frequency_reference_population": 0.22802544,
"hom_count_reference_population": 44756,
"allele_count_reference_population": 367992,
"gnomad_exomes_af": 0.231097,
"gnomad_genomes_af": 0.198528,
"gnomad_exomes_ac": 337776,
"gnomad_genomes_ac": 30216,
"gnomad_exomes_homalt": 41105,
"gnomad_genomes_homalt": 3651,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002850145101547241,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.949,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000614479.5",
"gene_symbol": "GOLGB1",
"hgnc_id": 4429,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3650A>G",
"hgvs_p": "p.Tyr1217Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}