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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: 22-24611214-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24611214&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GGT1",
"hgnc_id": 4250,
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_013421.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000286070",
"hgnc_id": null,
"hgvs_c": "n.*623G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000652248.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 105,
"alphamissense_prediction": null,
"alphamissense_score": 0.1007,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04337567090988159,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001288833.2",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400382.6",
"protein_coding": true,
"protein_id": "NP_001275762.1",
"strand": true,
"transcript": "NM_001288833.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000400382.6",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001288833.2",
"protein_coding": true,
"protein_id": "ENSP00000383232.1",
"strand": true,
"transcript": "ENST00000400382.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 801,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000400380.5",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383231.1",
"strand": true,
"transcript": "ENST00000400380.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000652248.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286070",
"hgvs_c": "n.*623G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499210.1",
"strand": true,
"transcript": "ENST00000652248.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2834,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000652248.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286070",
"hgvs_c": "n.*623G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499210.1",
"strand": true,
"transcript": "ENST00000652248.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_013421.3",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_038265.2",
"strand": true,
"transcript": "NM_013421.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_013430.3",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_038347.2",
"strand": true,
"transcript": "NM_013430.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875906.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545965.1",
"strand": true,
"transcript": "ENST00000875906.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 519,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875907.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545966.1",
"strand": true,
"transcript": "ENST00000875907.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875908.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545967.1",
"strand": true,
"transcript": "ENST00000875908.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875909.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545968.1",
"strand": true,
"transcript": "ENST00000875909.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875910.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545969.1",
"strand": true,
"transcript": "ENST00000875910.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875911.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545970.1",
"strand": true,
"transcript": "ENST00000875911.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875912.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545971.1",
"strand": true,
"transcript": "ENST00000875912.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875913.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545972.1",
"strand": true,
"transcript": "ENST00000875913.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875914.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545973.1",
"strand": true,
"transcript": "ENST00000875914.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875915.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545974.1",
"strand": true,
"transcript": "ENST00000875915.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875916.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545975.1",
"strand": true,
"transcript": "ENST00000875916.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000875917.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545976.1",
"strand": true,
"transcript": "ENST00000875917.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 465,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000875918.1",
"gene_hgnc_id": 4250,
"gene_symbol": "GGT1",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Ala45Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545977.1",
"strand": true,
"transcript": "ENST00000875918.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1710,
"cds_start": 133,
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