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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: 19-17479472-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17479472&ref=G&alt=T&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": "SLC27A1",
"hgnc_id": 10995,
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_198580.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 75931,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 646,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": null,
"cds_end": null,
"cds_length": 1941,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198580.3",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252595.12",
"protein_coding": true,
"protein_id": "NP_940982.1",
"strand": true,
"transcript": "NM_198580.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 646,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": null,
"cds_end": null,
"cds_length": 1941,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000252595.12",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198580.3",
"protein_coding": true,
"protein_id": "ENSP00000252595.6",
"strand": true,
"transcript": "ENST00000252595.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 658,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3767,
"cdna_start": null,
"cds_end": null,
"cds_length": 1977,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865647.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535706.1",
"strand": true,
"transcript": "ENST00000865647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 658,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3696,
"cdna_start": null,
"cds_end": null,
"cds_length": 1977,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865653.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535712.1",
"strand": true,
"transcript": "ENST00000865653.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 658,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3778,
"cdna_start": null,
"cds_end": null,
"cds_length": 1977,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970242.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640301.1",
"strand": true,
"transcript": "ENST00000970242.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 658,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": null,
"cds_end": null,
"cds_length": 1977,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970243.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640302.1",
"strand": true,
"transcript": "ENST00000970243.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 656,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": null,
"cds_end": null,
"cds_length": 1971,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865648.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-4410G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535707.1",
"strand": true,
"transcript": "ENST00000865648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 646,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": null,
"cds_end": null,
"cds_length": 1941,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865644.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535703.1",
"strand": true,
"transcript": "ENST00000865644.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": null,
"cds_end": null,
"cds_length": 1941,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000865645.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535704.1",
"strand": true,
"transcript": "ENST00000865645.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000865646.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000535705.1",
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"transcript": "ENST00000865646.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000865649.1",
"gene_hgnc_id": 10995,
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},
{
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],
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},
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],
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"feature": "ENST00000865651.1",
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},
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"consequences": [
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],
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"feature": "ENST00000865652.1",
"gene_hgnc_id": 10995,
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"mane_plus": null,
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"protein_coding": true,
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},
{
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"feature": "ENST00000970235.1",
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"protein_coding": true,
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},
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"consequences": [
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],
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"feature": "ENST00000970236.1",
"gene_hgnc_id": 10995,
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"protein_coding": true,
"protein_id": "ENSP00000640295.1",
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},
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],
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"feature": "ENST00000970238.1",
"gene_hgnc_id": 10995,
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},
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},
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],
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"feature": "ENST00000970241.1",
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},
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"consequences": [
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],
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"feature": "ENST00000865655.1",
"gene_hgnc_id": 10995,
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"protein_coding": true,
"protein_id": "ENSP00000535714.1",
"strand": true,
"transcript": "ENST00000865655.1",
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},
{
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000970239.1",
"gene_hgnc_id": 10995,
"gene_symbol": "SLC27A1",
"hgvs_c": "c.168-7091G>T",
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"mane_plus": null,
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"protein_id": "ENSP00000640298.1",
"strand": true,
"transcript": "ENST00000970239.1",
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},
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