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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: 12-12079405-CAT-TAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=12079405&ref=CAT&alt=TAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "BCL2L14",
"hgnc_id": 16657,
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_138722.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"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": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 306,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138723.2",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308721.9",
"protein_coding": true,
"protein_id": "NP_620049.1",
"strand": true,
"transcript": "NM_138723.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 306,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308721.9",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138723.2",
"protein_coding": true,
"protein_id": "ENSP00000309132.4",
"strand": true,
"transcript": "ENST00000308721.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 295,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396367.5",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379653.1",
"strand": true,
"transcript": "ENST00000396367.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 252,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 295,
"cds_end": null,
"cds_length": 759,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000266434.8",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000266434.4",
"strand": true,
"transcript": "ENST00000266434.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 175,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 583,
"cdna_start": 153,
"cds_end": null,
"cds_length": 530,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588270.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465663.1",
"strand": true,
"transcript": "ENST00000588270.1",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 360,
"aa_ref": "H",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1083,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586576.5",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.199_201delCATinsTAC",
"hgvs_p": "p.His67Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466693.1",
"strand": true,
"transcript": "ENST00000586576.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 253,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370268.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357197.1",
"strand": true,
"transcript": "NM_001370268.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 526,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370269.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357198.1",
"strand": true,
"transcript": "NM_001370269.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 360,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138722.2",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620048.1",
"strand": true,
"transcript": "NM_138722.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 270,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589718.5",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467086.1",
"strand": true,
"transcript": "ENST00000589718.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": 261,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864816.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534875.1",
"strand": true,
"transcript": "ENST00000864816.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 742,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864818.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534876.1",
"strand": true,
"transcript": "ENST00000864818.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 595,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864819.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534878.1",
"strand": true,
"transcript": "ENST00000864819.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3258,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864821.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534880.1",
"strand": true,
"transcript": "ENST00000864821.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 700,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864823.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534882.1",
"strand": true,
"transcript": "ENST00000864823.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 466,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864825.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534884.1",
"strand": true,
"transcript": "ENST00000864825.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 733,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864827.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534886.1",
"strand": true,
"transcript": "ENST00000864827.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 835,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955330.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625389.1",
"strand": true,
"transcript": "ENST00000955330.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 327,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 309,
"cds_end": null,
"cds_length": 984,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955331.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625390.1",
"strand": true,
"transcript": "ENST00000955331.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 252,
"aa_ref": "H",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 360,
"cds_end": null,
"cds_length": 759,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030766.2",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.100_102delCATinsTAC",
"hgvs_p": "p.His34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_110393.1",
"strand": true,
"transcript": "NM_030766.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 124,
"aa_ref": "H",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": 496,
"cds_end": null,
"cds_length": 375,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000461264.1",
"gene_hgnc_id": 16657,
"gene_symbol": "BCL2L14",
"hgvs_c": "c.109_111delCATinsTAC",
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