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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: 16-84179828-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84179828&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84179828,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000566732.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "NM_001243156.2",
"protein_id": "NP_001230085.2",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": "ENST00000566732.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000566732.6",
"protein_id": "ENSP00000455933.1",
"transcript_support_level": 2,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": "NM_001243156.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1441T>G",
"hgvs_p": "p.Leu481Val",
"transcript": "ENST00000341690.10",
"protein_id": "ENSP00000345305.6",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 775,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1723T>G",
"hgvs_p": "p.Leu575Val",
"transcript": "NM_005679.4",
"protein_id": "NP_005670.4",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 869,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1723T>G",
"hgvs_p": "p.Leu575Val",
"transcript": "ENST00000567759.5",
"protein_id": "ENSP00000455265.1",
"transcript_support_level": 2,
"aa_start": 575,
"aa_end": null,
"aa_length": 869,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1441T>G",
"hgvs_p": "p.Leu481Val",
"transcript": "NM_139353.3",
"protein_id": "NP_647610.3",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 775,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.727T>G",
"hgvs_p": "p.Leu243Val",
"transcript": "NM_001243157.2",
"protein_id": "NP_001230086.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 537,
"cds_start": 727,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.727T>G",
"hgvs_p": "p.Leu243Val",
"transcript": "NM_001243158.2",
"protein_id": "NP_001230087.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 537,
"cds_start": 727,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.727T>G",
"hgvs_p": "p.Leu243Val",
"transcript": "ENST00000541676.5",
"protein_id": "ENSP00000437900.2",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 537,
"cds_start": 727,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.727T>G",
"hgvs_p": "p.Leu243Val",
"transcript": "ENST00000570117.5",
"protein_id": "ENSP00000455247.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 537,
"cds_start": 727,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.496T>G",
"hgvs_p": "p.Leu166Val",
"transcript": "NM_001243159.2",
"protein_id": "NP_001230088.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 460,
"cds_start": 496,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.292T>G",
"hgvs_p": "p.Leu98Val",
"transcript": "NM_001243160.2",
"protein_id": "NP_001230089.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 392,
"cds_start": 292,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.433T>G",
"hgvs_p": "p.Leu145Val",
"transcript": "ENST00000568265.1",
"protein_id": "ENSP00000456101.1",
"transcript_support_level": 4,
"aa_start": 145,
"aa_end": null,
"aa_length": 378,
"cds_start": 433,
"cds_end": null,
"cds_length": 1139,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1726T>G",
"hgvs_p": "p.Leu576Val",
"transcript": "XM_006721325.4",
"protein_id": "XP_006721388.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 870,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1723T>G",
"hgvs_p": "p.Leu575Val",
"transcript": "XM_005256226.4",
"protein_id": "XP_005256283.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 869,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1648T>G",
"hgvs_p": "p.Leu550Val",
"transcript": "XM_006721326.4",
"protein_id": "XP_006721389.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 844,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "XM_017023845.2",
"protein_id": "XP_016879334.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1522T>G",
"hgvs_p": "p.Leu508Val",
"transcript": "XM_005256227.4",
"protein_id": "XP_005256284.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 802,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1444T>G",
"hgvs_p": "p.Leu482Val",
"transcript": "XM_017023847.2",
"protein_id": "XP_016879336.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 776,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 3686,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "n.1668T>G",
"hgvs_p": null,
"transcript": "ENST00000544090.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2747,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "n.*1019T>G",
"hgvs_p": null,
"transcript": "ENST00000563428.5",
"protein_id": "ENSP00000455787.1",
"transcript_support_level": 2,
"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": 2531,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "n.1836T>G",
"hgvs_p": null,
"transcript": "ENST00000564208.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3810,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "n.2663T>G",
"hgvs_p": null,
"transcript": "ENST00000564774.5",
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{
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{
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000566732.6",
"gene_symbol": "TAF1C",
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"effects": [
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"hgvs_p": "p.Leu549Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}