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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: 6-133525188-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=133525188&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EYA4",
"hgnc_id": 3522,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Arg597Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001301013.2",
"verdict": "Benign"
},
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TARID",
"hgnc_id": 50506,
"hgvs_c": "n.2261+10592C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -1,
"transcript": "ENST00000607033.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 81,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1J,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3400000035762787,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 639,
"aa_ref": "R",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_004100.5",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Arg591Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355286.12",
"protein_coding": true,
"protein_id": "NP_004091.3",
"strand": true,
"transcript": "NM_004100.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 639,
"aa_ref": "R",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000355286.12",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Arg591Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004100.5",
"protein_coding": true,
"protein_id": "ENSP00000347434.7",
"strand": true,
"transcript": "ENST00000355286.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000607033.5",
"gene_hgnc_id": 50506,
"gene_symbol": "TARID",
"hgvs_c": "n.2261+10592C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000607033.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5719,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001301013.2",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Arg597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287942.1",
"strand": true,
"transcript": "NM_001301013.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000531901.5",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Arg597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432770.1",
"strand": true,
"transcript": "ENST00000531901.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 639,
"aa_ref": "R",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5703,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000883053.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Arg591Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553112.1",
"strand": true,
"transcript": "ENST00000883053.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 639,
"aa_ref": "R",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000883059.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Arg591Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553118.1",
"strand": true,
"transcript": "ENST00000883059.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1722,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000883064.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Arg574Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553123.1",
"strand": true,
"transcript": "ENST00000883064.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5632,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1704,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_172103.4",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1704G>A",
"hgvs_p": "p.Arg568Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742101.2",
"strand": true,
"transcript": "NM_172103.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 616,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1704,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000431403.3",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1704G>A",
"hgvs_p": "p.Arg568Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404558.3",
"strand": true,
"transcript": "ENST00000431403.3",
"transcript_support_level": 5
},
{
"aa_alt": "R",
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"aa_length": 616,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1704,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000883062.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1704G>A",
"hgvs_p": "p.Arg568Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553121.1",
"strand": true,
"transcript": "ENST00000883062.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 611,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1689,
"consequences": [
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],
"exon_count": 20,
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"exon_rank_end": null,
"feature": "ENST00000883060.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Arg563Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553119.1",
"strand": true,
"transcript": "ENST00000883060.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5557,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1629,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001370459.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Arg543Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357388.1",
"strand": true,
"transcript": "NM_001370459.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2067,
"cds_end": null,
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"consequences": [
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],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000355167.8",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1629G>A",
"hgvs_p": "p.Arg543Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000347294.4",
"strand": true,
"transcript": "ENST00000355167.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9163,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 1965,
"cds_start": 1791,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017010368.3",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Arg597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865857.1",
"strand": true,
"transcript": "XM_017010368.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 9171,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017010369.3",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Arg591Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016865858.1",
"strand": true,
"transcript": "XM_017010369.3",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 9094,
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"cds_end": null,
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"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047418275.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Arg574Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047274231.1",
"strand": true,
"transcript": "XM_047418275.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 9105,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1707,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017010371.3",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1707G>A",
"hgvs_p": "p.Arg569Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865860.1",
"strand": true,
"transcript": "XM_017010371.3",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 2136,
"cds_end": null,
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"cds_start": 1704,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047418276.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1704G>A",
"hgvs_p": "p.Arg568Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274232.1",
"strand": true,
"transcript": "XM_047418276.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1722,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047418279.1",
"gene_hgnc_id": 3522,
"gene_symbol": "EYA4",
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Arg574Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274235.1",
"strand": true,
"transcript": "XM_047418279.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 620,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
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