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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: 15-76376171-TGG-CGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76376171&ref=TGG&alt=CGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCAPER",
"hgnc_id": 13081,
"hgvs_c": "c.3862_3864delCCAinsACG",
"hgvs_p": "p.Pro1288Thr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001353009.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "P",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 3947,
"cds_end": null,
"cds_length": 4203,
"cds_start": 3844,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020843.4",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3844_3846delCCAinsACG",
"hgvs_p": "p.Pro1282Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000563290.6",
"protein_coding": true,
"protein_id": "NP_065894.2",
"strand": false,
"transcript": "NM_020843.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "P",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 3947,
"cds_end": null,
"cds_length": 4203,
"cds_start": 3844,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563290.6",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3844_3846delCCAinsACG",
"hgvs_p": "p.Pro1282Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020843.4",
"protein_coding": true,
"protein_id": "ENSP00000454973.1",
"strand": false,
"transcript": "ENST00000563290.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "P",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 3905,
"cds_end": null,
"cds_length": 4203,
"cds_start": 3844,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000324767.11",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3844_3846delCCAinsACG",
"hgvs_p": "p.Pro1282Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326924.7",
"strand": false,
"transcript": "ENST00000324767.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "P",
"aa_start": 1036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4853,
"cdna_start": 4048,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3106,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538941.6",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3106_3108delCCAinsACG",
"hgvs_p": "p.Pro1036Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442190.2",
"strand": false,
"transcript": "ENST00000538941.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "P",
"aa_start": 1288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 4143,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3862,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353009.2",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3862_3864delCCAinsACG",
"hgvs_p": "p.Pro1288Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339938.1",
"strand": false,
"transcript": "NM_001353009.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "P",
"aa_start": 1288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": 4424,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3862,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867409.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3862_3864delCCAinsACG",
"hgvs_p": "p.Pro1288Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537468.1",
"strand": false,
"transcript": "ENST00000867409.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "P",
"aa_start": 1288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4868,
"cdna_start": 4078,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3862,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940731.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3862_3864delCCAinsACG",
"hgvs_p": "p.Pro1288Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610790.1",
"strand": false,
"transcript": "ENST00000940731.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1390,
"aa_ref": "P",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4611,
"cdna_start": 3912,
"cds_end": null,
"cds_length": 4173,
"cds_start": 3814,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867408.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3814_3816delCCAinsACG",
"hgvs_p": "p.Pro1272Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537467.1",
"strand": false,
"transcript": "ENST00000867408.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1378,
"aa_ref": "P",
"aa_start": 1260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4703,
"cdna_start": 3910,
"cds_end": null,
"cds_length": 4137,
"cds_start": 3778,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969238.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3778_3780delCCAinsACG",
"hgvs_p": "p.Pro1260Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639297.1",
"strand": false,
"transcript": "ENST00000969238.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "P",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4584,
"cdna_start": 3791,
"cds_end": null,
"cds_length": 4047,
"cds_start": 3688,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969239.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3688_3690delCCAinsACG",
"hgvs_p": "p.Pro1230Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639298.1",
"strand": false,
"transcript": "ENST00000969239.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1340,
"aa_ref": "P",
"aa_start": 1222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4737,
"cdna_start": 3945,
"cds_end": null,
"cds_length": 4023,
"cds_start": 3664,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867407.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3664_3666delCCAinsACG",
"hgvs_p": "p.Pro1222Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537466.1",
"strand": false,
"transcript": "ENST00000867407.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "P",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 4388,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3655,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969236.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3655_3657delCCAinsACG",
"hgvs_p": "p.Pro1219Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639295.1",
"strand": false,
"transcript": "ENST00000969236.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1272,
"aa_ref": "P",
"aa_start": 1154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5169,
"cdna_start": 4083,
"cds_end": null,
"cds_length": 3819,
"cds_start": 3460,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353011.2",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3460_3462delCCAinsACG",
"hgvs_p": "p.Pro1154Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339940.1",
"strand": false,
"transcript": "NM_001353011.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "P",
"aa_start": 1148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5194,
"cdna_start": 4108,
"cds_end": null,
"cds_length": 3801,
"cds_start": 3442,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353010.2",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3442_3444delCCAinsACG",
"hgvs_p": "p.Pro1148Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339939.1",
"strand": false,
"transcript": "NM_001353010.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "P",
"aa_start": 1148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": 4035,
"cds_end": null,
"cds_length": 3801,
"cds_start": 3442,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353012.2",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3442_3444delCCAinsACG",
"hgvs_p": "p.Pro1148Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339941.1",
"strand": false,
"transcript": "NM_001353012.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "P",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4279,
"cdna_start": 3489,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940730.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3397_3399delCCAinsACG",
"hgvs_p": "p.Pro1133Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610789.1",
"strand": false,
"transcript": "ENST00000940730.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "P",
"aa_start": 1036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5134,
"cdna_start": 4048,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3106,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145923.2",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3106_3108delCCAinsACG",
"hgvs_p": "p.Pro1036Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139395.1",
"strand": false,
"transcript": "NM_001145923.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 909,
"aa_ref": "P",
"aa_start": 791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 2522,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2371,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969237.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.2371_2373delCCAinsACG",
"hgvs_p": "p.Pro791Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639296.1",
"strand": false,
"transcript": "ENST00000969237.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "P",
"aa_start": 1313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5111,
"cdna_start": 4025,
"cds_end": null,
"cds_length": 4296,
"cds_start": 3937,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432620.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3937_3939delCCAinsACG",
"hgvs_p": "p.Pro1313Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288576.1",
"strand": false,
"transcript": "XM_047432620.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1425,
"aa_ref": "P",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5093,
"cdna_start": 4007,
"cds_end": null,
"cds_length": 4278,
"cds_start": 3919,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432621.1",
"gene_hgnc_id": 13081,
"gene_symbol": "SCAPER",
"hgvs_c": "c.3919_3921delCCAinsACG",
"hgvs_p": "p.Pro1307Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288577.1",
"strand": false,
"transcript": "XM_047432621.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1390,
"aa_ref": "P",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5039,
"cdna_start": 3953,
"cds_end": null,
"cds_length": 4173,
"cds_start": 3814,
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