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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: 2-115739741-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=115739741&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 115739741,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001321905.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Glu234Gln",
"transcript": "NM_020868.6",
"protein_id": "NP_065919.3",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 796,
"cds_start": 700,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": "ENST00000410059.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020868.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Glu234Gln",
"transcript": "ENST00000410059.6",
"protein_id": "ENSP00000386565.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 796,
"cds_start": 700,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": "NM_020868.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410059.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "ENST00000393147.6",
"protein_id": "ENSP00000376855.2",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 800,
"cds_start": 712,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393147.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "ENST00000310323.12",
"protein_id": "ENSP00000309066.8",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 789,
"cds_start": 679,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310323.12"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Glu251Gln",
"transcript": "NM_001321905.3",
"protein_id": "NP_001308834.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 813,
"cds_start": 751,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 6388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321905.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.712G>C",
"hgvs_p": "p.Glu238Gln",
"transcript": "NM_001178034.1",
"protein_id": "NP_001171505.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 800,
"cds_start": 712,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178034.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Glu230Gln",
"transcript": "NM_001178037.3",
"protein_id": "NP_001171508.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 792,
"cds_start": 688,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178037.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "NM_001004360.5",
"protein_id": "NP_001004360.3",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 789,
"cds_start": 679,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004360.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Glu227Gln",
"transcript": "NM_001321906.2",
"protein_id": "NP_001308835.2",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 789,
"cds_start": 679,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 6494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321906.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Glu234Gln",
"transcript": "NM_001321907.3",
"protein_id": "NP_001308836.2",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 783,
"cds_start": 700,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 5925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321907.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.610G>C",
"hgvs_p": "p.Glu204Gln",
"transcript": "NM_001321908.3",
"protein_id": "NP_001308837.2",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 766,
"cds_start": 610,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321908.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.583G>C",
"hgvs_p": "p.Glu195Gln",
"transcript": "NM_001321909.3",
"protein_id": "NP_001308838.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 757,
"cds_start": 583,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321909.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Glu184Gln",
"transcript": "NM_001178036.3",
"protein_id": "NP_001171507.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 746,
"cds_start": 550,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178036.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Glu184Gln",
"transcript": "NM_001321910.3",
"protein_id": "NP_001308839.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 746,
"cds_start": 550,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321910.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Glu184Gln",
"transcript": "NM_001321911.3",
"protein_id": "NP_001308840.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 746,
"cds_start": 550,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321911.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Glu184Gln",
"transcript": "NM_001399849.1",
"protein_id": "NP_001386778.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 746,
"cds_start": 550,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399849.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Glu184Gln",
"transcript": "ENST00000409163.5",
"protein_id": "ENSP00000387038.1",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 746,
"cds_start": 550,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409163.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.448G>C",
"hgvs_p": "p.Glu150Gln",
"transcript": "NM_001399851.1",
"protein_id": "NP_001386780.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 712,
"cds_start": 448,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 6531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399851.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Glu184Gln",
"transcript": "NM_001321912.3",
"protein_id": "NP_001308841.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 681,
"cds_start": 550,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321912.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.-63G>C",
"hgvs_p": null,
"transcript": "NM_001321913.3",
"protein_id": "NP_001308842.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321913.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP10",
"gene_hgnc_id": 20823,
"hgvs_c": "c.-63G>C",
"hgvs_p": null,
"transcript": "NM_001321914.2",
"protein_id": "NP_001308843.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": null,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321914.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
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{
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],
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.683,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321905.3",
"gene_symbol": "DPP10",
"hgnc_id": 20823,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Glu251Gln"
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{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "XR_923234.3",
"gene_symbol": "LOC105373572",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.68-173C>G",
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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
}