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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: 13-113040195-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113040195&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": "MCF2L",
"hgnc_id": 14576,
"hgvs_c": "c.378-5076A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001438390.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 17855,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.98,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9800000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1125,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6427,
"cdna_start": null,
"cds_end": null,
"cds_length": 3378,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001112732.3",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.279-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000535094.7",
"protein_coding": true,
"protein_id": "NP_001106203.2",
"strand": true,
"transcript": "NM_001112732.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1125,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6427,
"cdna_start": null,
"cds_end": null,
"cds_length": 3378,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535094.7",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.279-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001112732.3",
"protein_coding": true,
"protein_id": "ENSP00000440374.2",
"strand": true,
"transcript": "ENST00000535094.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1067,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3560,
"cdna_start": null,
"cds_end": null,
"cds_length": 3204,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421756.5",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.291-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397285.1",
"strand": true,
"transcript": "ENST00000421756.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 984,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": null,
"cds_end": null,
"cds_length": 2955,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375597.8",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.273-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364747.4",
"strand": true,
"transcript": "ENST00000375597.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1214,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6595,
"cdna_start": null,
"cds_end": null,
"cds_length": 3645,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438390.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.378-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425319.1",
"strand": true,
"transcript": "NM_001438390.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1211,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6620,
"cdna_start": null,
"cds_end": null,
"cds_length": 3636,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438391.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.369-5076A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425320.1",
"strand": true,
"transcript": "NM_001438391.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": null,
"cds_end": null,
"cds_length": 3612,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884942.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.279-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555001.1",
"strand": true,
"transcript": "ENST00000884942.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1197,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5476,
"cdna_start": null,
"cds_end": null,
"cds_length": 3594,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884941.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.279-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555000.1",
"strand": true,
"transcript": "ENST00000884941.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1195,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5302,
"cdna_start": null,
"cds_end": null,
"cds_length": 3588,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884943.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.279-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555002.1",
"strand": true,
"transcript": "ENST00000884943.1",
"transcript_support_level": null
},
{
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"aa_length": 1183,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6502,
"cdna_start": null,
"cds_end": null,
"cds_length": 3552,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438759.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.378-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425688.1",
"strand": true,
"transcript": "NM_001438759.1",
"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": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "NM_001437889.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.279-5076A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424818.1",
"strand": true,
"transcript": "NM_001437889.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000453297.6",
"gene_hgnc_id": 14576,
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"hgvs_c": "c.279-5076A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000392953.2",
"strand": true,
"transcript": "ENST00000453297.6",
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},
{
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],
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"feature": "NM_001438392.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001425321.1",
"strand": true,
"transcript": "NM_001438392.1",
"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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"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "NM_001438760.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.273-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001425689.1",
"strand": true,
"transcript": "NM_001438760.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 32,
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"feature": "NM_001438761.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.225-5076A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001425690.1",
"strand": true,
"transcript": "NM_001438761.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "NM_001438762.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.378-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425691.1",
"strand": true,
"transcript": "NM_001438762.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438393.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.369-5076A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001425322.1",
"strand": true,
"transcript": "NM_001438393.1",
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},
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"consequences": [
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],
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"feature": "NM_001438763.1",
"gene_hgnc_id": 14576,
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"protein_id": "NP_001425692.1",
"strand": true,
"transcript": "NM_001438763.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 31,
"exon_rank": null,
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"feature": "NM_001320815.2",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.273-5076A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001307744.1",
"strand": true,
"transcript": "NM_001320815.2",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420013.6",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.252-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404422.2",
"strand": true,
"transcript": "ENST00000420013.6",
"transcript_support_level": 4
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920919.1",
"gene_hgnc_id": 14576,
"gene_symbol": "MCF2L",
"hgvs_c": "c.279-5076A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590978.1",
"strand": true,
"transcript": "ENST00000920919.1",
"transcript_support_level": null
},
{
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