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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: 16-23603651-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23603651&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 23603651,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000261584.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3369G>A",
"hgvs_p": "p.Val1123Val",
"transcript": "NM_024675.4",
"protein_id": "NP_078951.2",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3369,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "ENST00000261584.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3369G>A",
"hgvs_p": "p.Val1123Val",
"transcript": "ENST00000261584.9",
"protein_id": "ENSP00000261584.4",
"transcript_support_level": 1,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3369,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "NM_024675.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2484G>A",
"hgvs_p": "p.Val828Val",
"transcript": "ENST00000568219.5",
"protein_id": "ENSP00000454703.2",
"transcript_support_level": 1,
"aa_start": 828,
"aa_end": null,
"aa_length": 891,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3480,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3375G>A",
"hgvs_p": "p.Val1125Val",
"transcript": "ENST00000561514.3",
"protein_id": "ENSP00000460666.3",
"transcript_support_level": 5,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3375,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 4374,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3375G>A",
"hgvs_p": "p.Val1125Val",
"transcript": "ENST00000697379.2",
"protein_id": "ENSP00000513287.2",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3375,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3674,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3309G>A",
"hgvs_p": "p.Val1103Val",
"transcript": "NM_001407296.1",
"protein_id": "NP_001394225.1",
"transcript_support_level": null,
"aa_start": 1103,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3309,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3297G>A",
"hgvs_p": "p.Val1099Val",
"transcript": "NM_001407297.1",
"protein_id": "NP_001394226.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3297,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3450,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3213G>A",
"hgvs_p": "p.Val1071Val",
"transcript": "ENST00000697377.2",
"protein_id": "ENSP00000513286.2",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3213,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3207G>A",
"hgvs_p": "p.Val1069Val",
"transcript": "NM_001407298.1",
"protein_id": "NP_001394227.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3207,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3132G>A",
"hgvs_p": "p.Val1044Val",
"transcript": "NM_001407299.1",
"protein_id": "NP_001394228.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3285,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3132G>A",
"hgvs_p": "p.Val1044Val",
"transcript": "ENST00000713774.1",
"protein_id": "ENSP00000519076.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3286,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.3090G>A",
"hgvs_p": "p.Val1030Val",
"transcript": "NM_001407300.1",
"protein_id": "NP_001394229.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3243,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2484G>A",
"hgvs_p": "p.Val828Val",
"transcript": "NM_001407304.1",
"protein_id": "NP_001394233.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 891,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 4380,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2484G>A",
"hgvs_p": "p.Val828Val",
"transcript": "NM_001407305.1",
"protein_id": "NP_001394234.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 891,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3656,
"cdna_end": null,
"cdna_length": 4142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2484G>A",
"hgvs_p": "p.Val828Val",
"transcript": "NM_001407306.1",
"protein_id": "NP_001394235.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 891,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3505,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2484G>A",
"hgvs_p": "p.Val828Val",
"transcript": "ENST00000697374.1",
"protein_id": "ENSP00000513284.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 891,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2322G>A",
"hgvs_p": "p.Val774Val",
"transcript": "NM_001407307.1",
"protein_id": "NP_001394236.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 837,
"cds_start": 2322,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 3494,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2247G>A",
"hgvs_p": "p.Val749Val",
"transcript": "NM_001407308.1",
"protein_id": "NP_001394237.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 812,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.2247G>A",
"hgvs_p": "p.Val749Val",
"transcript": "NM_001407309.1",
"protein_id": "NP_001394238.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 812,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.1581G>A",
"hgvs_p": "p.Val527Val",
"transcript": "NM_001407312.1",
"protein_id": "NP_001394241.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 590,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Val301Val",
"transcript": "NM_001407314.1",
"protein_id": "NP_001394243.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 364,
"cds_start": 903,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALB2",
"gene_hgnc_id": 26144,
"hgvs_c": "c.903G>A",
"hgvs_p": "p.Val301Val",
"transcript": "ENST00000697383.1",
"protein_id": "ENSP00000513289.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 364,
"cds_start": 903,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 1412,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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{
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"clinvar_submissions_summary": "LB:4 B:1",
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}
],
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}