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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: 13-112516502-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=112516502&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 112516502,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006322.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "NM_006322.6",
"protein_id": "NP_006313.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 907,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261965.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006322.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "ENST00000261965.8",
"protein_id": "ENSP00000261965.3",
"transcript_support_level": 1,
"aa_start": 675,
"aa_end": null,
"aa_length": 907,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006322.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261965.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "ENST00000375669.7",
"protein_id": "ENSP00000364821.3",
"transcript_support_level": 1,
"aa_start": 675,
"aa_end": null,
"aa_length": 824,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375669.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2111A>G",
"hgvs_p": "p.Tyr704Cys",
"transcript": "ENST00000947427.1",
"protein_id": "ENSP00000617486.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 936,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947427.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Tyr703Cys",
"transcript": "ENST00000931607.1",
"protein_id": "ENSP00000601666.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 935,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931607.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2021A>G",
"hgvs_p": "p.Tyr674Cys",
"transcript": "ENST00000865803.1",
"protein_id": "ENSP00000535862.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 906,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865803.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2018A>G",
"hgvs_p": "p.Tyr673Cys",
"transcript": "ENST00000947426.1",
"protein_id": "ENSP00000617485.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 905,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947426.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2015A>G",
"hgvs_p": "p.Tyr672Cys",
"transcript": "ENST00000947429.1",
"protein_id": "ENSP00000617488.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 904,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947429.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "ENST00000947431.1",
"protein_id": "ENSP00000617490.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 903,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947431.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Tyr665Cys",
"transcript": "NM_001286277.2",
"protein_id": "NP_001273206.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 897,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286277.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.1955A>G",
"hgvs_p": "p.Tyr652Cys",
"transcript": "ENST00000865805.1",
"protein_id": "ENSP00000535864.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 884,
"cds_start": 1955,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865805.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.1934A>G",
"hgvs_p": "p.Tyr645Cys",
"transcript": "ENST00000865807.1",
"protein_id": "ENSP00000535866.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 877,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865807.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.1916A>G",
"hgvs_p": "p.Tyr639Cys",
"transcript": "ENST00000931606.1",
"protein_id": "ENSP00000601665.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 871,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931606.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "ENST00000947430.1",
"protein_id": "ENSP00000617489.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 868,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947430.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "ENST00000865801.1",
"protein_id": "ENSP00000535860.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 863,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865801.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "ENST00000865806.1",
"protein_id": "ENSP00000535865.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 860,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865806.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.1808A>G",
"hgvs_p": "p.Tyr603Cys",
"transcript": "ENST00000865804.1",
"protein_id": "ENSP00000535863.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 835,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865804.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "NM_001286278.2",
"protein_id": "NP_001273207.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 824,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286278.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.1724A>G",
"hgvs_p": "p.Tyr575Cys",
"transcript": "ENST00000865800.1",
"protein_id": "ENSP00000535859.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 807,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865800.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Tyr552Cys",
"transcript": "ENST00000947428.1",
"protein_id": "ENSP00000617487.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 784,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947428.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.2024A>G",
"hgvs_p": "p.Tyr675Cys",
"transcript": "XM_005268293.3",
"protein_id": "XP_005268350.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 818,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268293.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP3",
"gene_hgnc_id": 18598,
"hgvs_c": "c.1724A>G",
"hgvs_p": "p.Tyr575Cys",
"transcript": "XM_011537462.3",
"protein_id": "XP_011535764.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
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{
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{
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],
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],
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8578205108642578,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.53,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.522,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.312,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006322.6",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"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
}