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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: 15-40411600-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40411600&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40411600,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000487418.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.596G>T",
"hgvs_p": "p.Gly199Val",
"transcript": "NM_002225.5",
"protein_id": "NP_002216.3",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 423,
"cds_start": 596,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": "ENST00000487418.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.596G>T",
"hgvs_p": "p.Gly199Val",
"transcript": "ENST00000487418.8",
"protein_id": "ENSP00000418397.3",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 423,
"cds_start": 596,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": "NM_002225.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.506G>T",
"hgvs_p": "p.Gly169Val",
"transcript": "ENST00000479013.7",
"protein_id": "ENSP00000417990.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 393,
"cds_start": 506,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.596G>T",
"hgvs_p": "p.Gly199Val",
"transcript": "NM_001354601.3",
"protein_id": "NP_001341530.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 484,
"cds_start": 596,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.683G>T",
"hgvs_p": "p.Gly228Val",
"transcript": "NM_001354600.3",
"protein_id": "NP_001341529.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 473,
"cds_start": 683,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.683G>T",
"hgvs_p": "p.Gly228Val",
"transcript": "NM_001354599.3",
"protein_id": "NP_001341528.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 452,
"cds_start": 683,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.596G>T",
"hgvs_p": "p.Gly199Val",
"transcript": "NM_001354598.3",
"protein_id": "NP_001341527.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 444,
"cds_start": 596,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.605G>T",
"hgvs_p": "p.Gly202Val",
"transcript": "ENST00000651168.1",
"protein_id": "ENSP00000499074.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 426,
"cds_start": 605,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.548G>T",
"hgvs_p": "p.Gly183Val",
"transcript": "NM_001354597.3",
"protein_id": "NP_001341526.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 407,
"cds_start": 548,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.515G>T",
"hgvs_p": "p.Gly172Val",
"transcript": "ENST00000650656.1",
"protein_id": "ENSP00000498731.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 396,
"cds_start": 515,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 4575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.506G>T",
"hgvs_p": "p.Gly169Val",
"transcript": "NM_001159508.3",
"protein_id": "NP_001152980.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 393,
"cds_start": 506,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.353G>T",
"hgvs_p": "p.Gly118Val",
"transcript": "ENST00000473112.6",
"protein_id": "ENSP00000417256.2",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 305,
"cds_start": 353,
"cds_end": null,
"cds_length": 918,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.548G>T",
"hgvs_p": "p.Gly183Val",
"transcript": "ENST00000558610.5",
"protein_id": "ENSP00000453821.1",
"transcript_support_level": 3,
"aa_start": 183,
"aa_end": null,
"aa_length": 211,
"cds_start": 548,
"cds_end": null,
"cds_length": 638,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Gly231Val",
"transcript": "XM_017022149.2",
"protein_id": "XP_016877638.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 516,
"cds_start": 692,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.635G>T",
"hgvs_p": "p.Gly212Val",
"transcript": "XM_047432460.1",
"protein_id": "XP_047288416.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 497,
"cds_start": 635,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.548G>T",
"hgvs_p": "p.Gly183Val",
"transcript": "XM_047432461.1",
"protein_id": "XP_047288417.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 468,
"cds_start": 548,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Gly231Val",
"transcript": "XM_017022153.2",
"protein_id": "XP_016877642.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 447,
"cds_start": 692,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.635G>T",
"hgvs_p": "p.Gly212Val",
"transcript": "XM_017022154.3",
"protein_id": "XP_016877643.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 436,
"cds_start": 635,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Gly231Val",
"transcript": "XM_017022155.3",
"protein_id": "XP_016877644.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 418,
"cds_start": 692,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.605G>T",
"hgvs_p": "p.Gly202Val",
"transcript": "XM_047432462.1",
"protein_id": "XP_047288418.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 418,
"cds_start": 605,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.605G>T",
"hgvs_p": "p.Gly202Val",
"transcript": "XM_047432463.1",
"protein_id": "XP_047288419.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 389,
"cds_start": 605,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.692G>T",
"hgvs_p": "p.Gly231Val",
"transcript": "XM_017022157.2",
"protein_id": "XP_016877646.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 376,
"cds_start": 692,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.548G>T",
"hgvs_p": "p.Gly183Val",
"transcript": "XM_047432464.1",
"protein_id": "XP_047288420.1",
"transcript_support_level": null,
"aa_start": 183,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.568,
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{
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"verdict": "Pathogenic",
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],
"clinvar_disease": " type I,Isovaleric acidemia,Isovaleryl-CoA dehydrogenase deficiency,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"phenotype_combined": "Isovaleric acidemia, type I|not provided|Isovaleryl-CoA dehydrogenase deficiency",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}