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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: 11-61339169-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61339169&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TKFC",
"hgnc_id": 24552,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001351977.2",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DDB1",
"hgnc_id": 2717,
"hgvs_c": "n.-166+3199G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "ENST00000540166.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 747,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.44999998807907104,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015533.4",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394900.8",
"protein_coding": true,
"protein_id": "NP_056348.2",
"strand": true,
"transcript": "NM_015533.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000394900.8",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015533.4",
"protein_coding": true,
"protein_id": "ENSP00000378360.3",
"strand": true,
"transcript": "ENST00000394900.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 533,
"aa_ref": "A",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1602,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000529479.5",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.294C>T",
"hgvs_p": "p.Ala98Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432539.1",
"strand": true,
"transcript": "ENST00000529479.5",
"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": 3906,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540166.5",
"gene_hgnc_id": 2717,
"gene_symbol": "DDB1",
"hgvs_c": "n.-166+3199G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000440269.1",
"strand": false,
"transcript": "ENST00000540166.5",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 598,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1797,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351977.2",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338906.1",
"strand": true,
"transcript": "NM_001351977.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 583,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 496,
"cds_end": null,
"cds_length": 1752,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861187.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531246.1",
"strand": true,
"transcript": "ENST00000861187.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4780,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001351976.2",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338905.1",
"strand": true,
"transcript": "NM_001351976.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 826,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861186.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531245.1",
"strand": true,
"transcript": "ENST00000861186.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000920730.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590789.1",
"strand": true,
"transcript": "ENST00000920730.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920732.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590791.1",
"strand": true,
"transcript": "ENST00000920732.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920733.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590792.1",
"strand": true,
"transcript": "ENST00000920733.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000920734.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590793.1",
"strand": true,
"transcript": "ENST00000920734.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 575,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920735.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590794.1",
"strand": true,
"transcript": "ENST00000920735.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 575,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000920736.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590795.1",
"strand": true,
"transcript": "ENST00000920736.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1728,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954340.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624399.1",
"strand": true,
"transcript": "ENST00000954340.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 573,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1722,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954341.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624400.1",
"strand": true,
"transcript": "ENST00000954341.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 568,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1707,
"cds_start": 297,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351978.2",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338907.1",
"strand": true,
"transcript": "NM_001351978.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 564,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1695,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954339.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624398.1",
"strand": true,
"transcript": "ENST00000954339.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 545,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1638,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861183.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531242.1",
"strand": true,
"transcript": "ENST00000861183.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1611,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861184.1",
"gene_hgnc_id": 24552,
"gene_symbol": "TKFC",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Ala99Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531243.1",
"strand": true,
"transcript": "ENST00000861184.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1611,
"cds_start": 297,
"consequences": [
"synonymous_variant"
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},
{
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],
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],
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"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
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}
]
}