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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: 1-209778921-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=209778921&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TRAF3IP3",
"hgnc_id": 30766,
"hgvs_c": "c.1253-394T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_025228.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 9483,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_025228.4",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1253-394T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367025.8",
"protein_coding": true,
"protein_id": "NP_079504.2",
"strand": true,
"transcript": "NM_025228.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367025.8",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1253-394T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025228.4",
"protein_coding": true,
"protein_id": "ENSP00000355992.3",
"strand": true,
"transcript": "ENST00000367025.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367026.7",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1193-394T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355993.3",
"strand": true,
"transcript": "ENST00000367026.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478359.5",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "n.*55-394T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417665.1",
"strand": true,
"transcript": "ENST00000478359.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320143.2",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1253-394T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307072.1",
"strand": true,
"transcript": "NM_001320143.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367024.5",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1253-394T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355991.1",
"strand": true,
"transcript": "ENST00000367024.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 551,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": null,
"cds_end": null,
"cds_length": 1656,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884882.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1253-394T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554941.1",
"strand": true,
"transcript": "ENST00000884882.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320144.2",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1193-394T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307073.1",
"strand": true,
"transcript": "NM_001320144.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 531,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884881.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1252+748T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554940.1",
"strand": true,
"transcript": "ENST00000884881.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 530,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": null,
"cds_end": null,
"cds_length": 1593,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884880.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1190-394T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554939.1",
"strand": true,
"transcript": "ENST00000884880.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884884.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1192+748T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554943.1",
"strand": true,
"transcript": "ENST00000884884.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000884883.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1189+1434T>A",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554942.1",
"strand": true,
"transcript": "ENST00000884883.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000957589.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1129+1434T>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627648.1",
"strand": true,
"transcript": "ENST00000957589.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": 1215,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400959.7",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1193-510T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383743.3",
"strand": true,
"transcript": "ENST00000400959.7",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "NM_001287754.2",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.461-394T>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001274683.1",
"strand": true,
"transcript": "NM_001287754.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": null,
"cds_end": null,
"cds_length": 549,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367023.5",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.461-394T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355990.1",
"strand": true,
"transcript": "ENST00000367023.5",
"transcript_support_level": 3
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 791,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000477431.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.397+1434T>A",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000417417.1",
"strand": true,
"transcript": "ENST00000477431.1",
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},
{
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"cdna_end": null,
"cdna_length": 1983,
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"consequences": [
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],
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"feature": "XM_047430963.1",
"gene_hgnc_id": 30766,
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"protein_coding": true,
"protein_id": "XP_047286919.1",
"strand": true,
"transcript": "XM_047430963.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "XM_047430964.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1253-394T>A",
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"protein_coding": true,
"protein_id": "XP_047286920.1",
"strand": true,
"transcript": "XM_047430964.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "XM_011510018.4",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1253-510T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508320.1",
"strand": true,
"transcript": "XM_011510018.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": null,
"cds_end": null,
"cds_length": 864,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005273279.6",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.461-394T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005273336.1",
"strand": true,
"transcript": "XM_005273279.6",
"transcript_support_level": null
},
{
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