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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: 11-61008631-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61008631&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CD6",
"hgnc_id": 1691,
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_006725.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17800000309944153,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 668,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2007,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006725.5",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313421.11",
"protein_coding": true,
"protein_id": "NP_006716.3",
"strand": true,
"transcript": "NM_006725.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 668,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2007,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000313421.11",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006725.5",
"protein_coding": true,
"protein_id": "ENSP00000323280.7",
"strand": true,
"transcript": "ENST00000313421.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 601,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1806,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000352009.9",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340628.5",
"strand": true,
"transcript": "ENST00000352009.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 592,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1779,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000452451.6",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390676.2",
"strand": true,
"transcript": "ENST00000452451.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 277,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": 567,
"cds_end": null,
"cds_length": 835,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000542157.5",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440055.1",
"strand": true,
"transcript": "ENST00000542157.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 667,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 758,
"cds_end": null,
"cds_length": 2004,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899021.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569081.1",
"strand": true,
"transcript": "ENST00000899021.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 648,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1947,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899028.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569087.1",
"strand": true,
"transcript": "ENST00000899028.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 645,
"aa_ref": "T",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1938,
"cds_start": 498,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899027.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.498T>A",
"hgvs_p": "p.Thr166Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569086.1",
"strand": true,
"transcript": "ENST00000899027.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 636,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3110,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1911,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899031.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569090.1",
"strand": true,
"transcript": "ENST00000899031.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 635,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1908,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899026.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569085.1",
"strand": true,
"transcript": "ENST00000899026.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 633,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1902,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899033.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569092.1",
"strand": true,
"transcript": "ENST00000899033.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 627,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1884,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899032.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569091.1",
"strand": true,
"transcript": "ENST00000899032.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 620,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1863,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899034.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569093.1",
"strand": true,
"transcript": "ENST00000899034.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 601,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1806,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001254750.2",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001241679.1",
"strand": true,
"transcript": "NM_001254750.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 594,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1785,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899030.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569089.1",
"strand": true,
"transcript": "ENST00000899030.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 592,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1779,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001254751.2",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001241680.1",
"strand": true,
"transcript": "NM_001254751.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1674,
"cds_start": 357,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899024.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Thr119Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569084.1",
"strand": true,
"transcript": "ENST00000899024.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 421,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1268,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000433107.6",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410638.2",
"strand": true,
"transcript": "ENST00000433107.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 183,
"aa_ref": "T",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": 98,
"cds_end": null,
"cds_length": 554,
"cds_start": 96,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000538611.1",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.96T>A",
"hgvs_p": "p.Thr32Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443747.1",
"strand": true,
"transcript": "ENST00000538611.1",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 667,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3249,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2004,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011545360.3",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543662.1",
"strand": true,
"transcript": "XM_011545360.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 636,
"aa_ref": "T",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1911,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006718738.3",
"gene_hgnc_id": 1691,
"gene_symbol": "CD6",
"hgvs_c": "c.567T>A",
"hgvs_p": "p.Thr189Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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