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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: 9-35057536-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35057536&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "VCP",
"hgnc_id": 12666,
"hgvs_c": "c.2161-6C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_007126.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "9",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007126.5",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2161-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358901.11",
"protein_coding": true,
"protein_id": "NP_009057.1",
"strand": false,
"transcript": "NM_007126.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358901.11",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2161-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007126.5",
"protein_coding": true,
"protein_id": "ENSP00000351777.6",
"strand": false,
"transcript": "ENST00000358901.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1159,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000479300.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "n.689-6C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479300.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 837,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": null,
"cds_end": null,
"cds_length": 2514,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969527.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2254-6C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639586.1",
"strand": false,
"transcript": "ENST00000969527.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 805,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": null,
"cds_end": null,
"cds_length": 2418,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940607.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2158-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610666.1",
"strand": false,
"transcript": "ENST00000940607.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 805,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": null,
"cds_end": null,
"cds_length": 2418,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969526.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2165-13C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639585.1",
"strand": false,
"transcript": "ENST00000969526.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 804,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": null,
"cds_end": null,
"cds_length": 2415,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677257.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2155-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504354.1",
"strand": false,
"transcript": "ENST00000677257.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 804,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": null,
"cds_end": null,
"cds_length": 2415,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969525.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2155-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639584.1",
"strand": false,
"transcript": "ENST00000969525.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 799,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": null,
"cds_end": null,
"cds_length": 2400,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969528.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2140-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639587.1",
"strand": false,
"transcript": "ENST00000969528.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 791,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": null,
"cds_end": null,
"cds_length": 2376,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969529.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2116-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639588.1",
"strand": false,
"transcript": "ENST00000969529.1",
"transcript_support_level": null
},
{
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"aa_length": 785,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": null,
"cds_end": null,
"cds_length": 2358,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940608.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2098-6C>T",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610667.1",
"strand": false,
"transcript": "ENST00000940608.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854255.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2071-6C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524314.1",
"strand": false,
"transcript": "ENST00000854255.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6033,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000679902.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2161-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506338.1",
"strand": false,
"transcript": "ENST00000679902.1",
"transcript_support_level": null
},
{
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"aa_length": 765,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": null,
"cds_end": null,
"cds_length": 2298,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000854254.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2038-6C>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524313.1",
"strand": false,
"transcript": "ENST00000854254.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": null,
"cds_end": null,
"cds_length": 2286,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354927.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2026-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341856.1",
"strand": false,
"transcript": "NM_001354927.2",
"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": 4326,
"cdna_start": null,
"cds_end": null,
"cds_length": 2286,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354928.2",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2026-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341857.1",
"strand": false,
"transcript": "NM_001354928.2",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
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"feature": "ENST00000417448.2",
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"hgvs_c": "c.2026-6C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000399456.2",
"strand": false,
"transcript": "ENST00000417448.2",
"transcript_support_level": 3
},
{
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"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448530.6",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2026-6C>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000392088.2",
"strand": false,
"transcript": "ENST00000448530.6",
"transcript_support_level": 5
},
{
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"cds_length": 2286,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000678650.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2026-6C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503426.1",
"strand": false,
"transcript": "ENST00000678650.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 760,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": null,
"cds_end": null,
"cds_length": 2283,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679862.1",
"gene_hgnc_id": 12666,
"gene_symbol": "VCP",
"hgvs_c": "c.2026-9C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504990.1",
"strand": false,
"transcript": "ENST00000679862.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": null,
"cds_end": null,
"cds_length": 2265,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 16,
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