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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: 10-89439020-CCG-TCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89439020&ref=CCG&alt=TCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC16A12",
"hgnc_id": 23094,
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_213606.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC16A12-AS1",
"hgnc_id": 51205,
"hgvs_c": "n.99+6806_99+6808delCCGinsTCT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000765073.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"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": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_213606.4",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371790.5",
"protein_coding": true,
"protein_id": "NP_998771.3",
"strand": false,
"transcript": "NM_213606.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371790.5",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213606.4",
"protein_coding": true,
"protein_id": "ENSP00000360855.4",
"strand": false,
"transcript": "ENST00000371790.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899673.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569732.1",
"strand": false,
"transcript": "ENST00000899673.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4818,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899674.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569733.1",
"strand": false,
"transcript": "ENST00000899674.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4890,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899675.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569734.1",
"strand": false,
"transcript": "ENST00000899675.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4570,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899677.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569736.1",
"strand": false,
"transcript": "ENST00000899677.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4748,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899678.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569737.1",
"strand": false,
"transcript": "ENST00000899678.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899679.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569738.1",
"strand": false,
"transcript": "ENST00000899679.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899680.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569739.1",
"strand": false,
"transcript": "ENST00000899680.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899681.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569740.1",
"strand": false,
"transcript": "ENST00000899681.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4755,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899682.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569741.1",
"strand": false,
"transcript": "ENST00000899682.1",
"transcript_support_level": null
},
{
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"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899683.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569742.1",
"strand": false,
"transcript": "ENST00000899683.1",
"transcript_support_level": null
},
{
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"aa_length": 516,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899684.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569743.1",
"strand": false,
"transcript": "ENST00000899684.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 516,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899685.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569744.1",
"strand": false,
"transcript": "ENST00000899685.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 865,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899686.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569745.1",
"strand": false,
"transcript": "ENST00000899686.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924870.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594929.1",
"strand": false,
"transcript": "ENST00000924870.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951865.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621924.1",
"strand": false,
"transcript": "ENST00000951865.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951866.1",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621925.1",
"strand": false,
"transcript": "ENST00000951866.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016237.3",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871726.1",
"strand": false,
"transcript": "XM_017016237.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1551,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016238.2",
"gene_hgnc_id": 23094,
"gene_symbol": "SLC16A12",
"hgvs_c": "c.610_612delCGGinsAGA",
"hgvs_p": "p.205",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871727.1",
"strand": false,
"transcript": "XM_017016238.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "R",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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