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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: 3-52551974-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52551974&ref=A&alt=G&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": "PBRM1",
"hgnc_id": 30064,
"hgvs_c": "c.4655-1157T>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001405601.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "UQCC5",
"hgnc_id": 37257,
"hgvs_c": "c.151+15068A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000476842.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "RNU6-856P",
"hgnc_id": 47819,
"hgvs_c": "n.-31T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000516959.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 51663,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1704,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7991,
"cdna_start": null,
"cds_end": null,
"cds_length": 5115,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405607.1",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4655-1157T>C",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000707071.1",
"protein_coding": true,
"protein_id": "NP_001392536.1",
"strand": false,
"transcript": "NM_001405607.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1704,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7991,
"cdna_start": null,
"cds_end": null,
"cds_length": 5115,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000707071.1",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4655-1157T>C",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001405607.1",
"protein_coding": true,
"protein_id": "ENSP00000516722.1",
"strand": false,
"transcript": "ENST00000707071.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": null,
"cds_end": null,
"cds_length": 5070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296302.11",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4610-1157T>C",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296302.7",
"strand": false,
"transcript": "ENST00000296302.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1652,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5015,
"cdna_start": null,
"cds_end": null,
"cds_length": 4959,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409114.7",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4499-1157T>C",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386643.3",
"strand": false,
"transcript": "ENST00000409114.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1634,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4980,
"cdna_start": null,
"cds_end": null,
"cds_length": 4905,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409057.5",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4445-1157T>C",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386593.1",
"strand": false,
"transcript": "ENST00000409057.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1609,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4905,
"cdna_start": null,
"cds_end": null,
"cds_length": 4830,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000410007.5",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4370-1157T>C",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386529.1",
"strand": false,
"transcript": "ENST00000410007.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1602,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7523,
"cdna_start": null,
"cds_end": null,
"cds_length": 4809,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356770.8",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4349-1157T>C",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349213.4",
"strand": false,
"transcript": "ENST00000356770.8",
"transcript_support_level": 1
},
{
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"aa_length": 1597,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4849,
"cdna_start": null,
"cds_end": null,
"cds_length": 4794,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409767.5",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4334-1157T>C",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386601.1",
"strand": false,
"transcript": "ENST00000409767.5",
"transcript_support_level": 1
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4825,
"cdna_start": null,
"cds_end": null,
"cds_length": 4749,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337303.8",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4289-1157T>C",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338302.4",
"strand": false,
"transcript": "ENST00000337303.8",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394830.7",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4289-1157T>C",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378307.3",
"strand": false,
"transcript": "ENST00000394830.7",
"transcript_support_level": 1
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000412587.5",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "n.*1659-1157T>C",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000404579.1",
"strand": false,
"transcript": "ENST00000412587.5",
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},
{
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],
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"feature": "NM_001405601.1",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001392530.1",
"strand": false,
"transcript": "NM_001405601.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 32,
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"feature": "ENST00000875042.1",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4655-1157T>C",
"hgvs_p": null,
"intron_rank": 29,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000545101.1",
"strand": false,
"transcript": "ENST00000875042.1",
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},
{
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"consequences": [
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],
"exon_count": 31,
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"feature": "NM_001405598.1",
"gene_hgnc_id": 30064,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001392527.1",
"strand": false,
"transcript": "NM_001405598.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 5076,
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"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405570.1",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4616-1157T>C",
"hgvs_p": null,
"intron_rank": 28,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001392499.1",
"strand": false,
"transcript": "NM_001405570.1",
"transcript_support_level": null
},
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "NM_001394867.1",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4610-1157T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001381796.1",
"strand": false,
"transcript": "NM_001394867.1",
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},
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],
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"feature": "NM_001394868.1",
"gene_hgnc_id": 30064,
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},
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],
"exon_count": 32,
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"feature": "NM_001394869.1",
"gene_hgnc_id": 30064,
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"strand": false,
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},
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"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400470.1",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4610-1157T>C",
"hgvs_p": null,
"intron_rank": 28,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001387399.1",
"strand": false,
"transcript": "NM_001400470.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405581.1",
"gene_hgnc_id": 30064,
"gene_symbol": "PBRM1",
"hgvs_c": "c.4610-1157T>C",
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"intron_rank": 28,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001392510.1",
"strand": false,
"transcript": "NM_001405581.1",
"transcript_support_level": null
},
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