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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: 11-47743354-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47743354&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FNBP4",
"hgnc_id": 19752,
"hgvs_c": "c.1681+599C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001441100.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 2986,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1017,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": null,
"cds_end": null,
"cds_length": 3054,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015308.5",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1456+599C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263773.10",
"protein_coding": true,
"protein_id": "NP_056123.2",
"strand": false,
"transcript": "NM_015308.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1017,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": null,
"cds_end": null,
"cds_length": 3054,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263773.10",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1456+599C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015308.5",
"protein_coding": true,
"protein_id": "ENSP00000263773.5",
"strand": false,
"transcript": "ENST00000263773.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1092,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": null,
"cds_end": null,
"cds_length": 3279,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441100.1",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1681+599C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428029.1",
"strand": false,
"transcript": "NM_001441100.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1092,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": null,
"cds_end": null,
"cds_length": 3279,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441101.1",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1681+599C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428030.1",
"strand": false,
"transcript": "NM_001441101.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1090,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": null,
"cds_end": null,
"cds_length": 3273,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441102.1",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1675+599C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428031.1",
"strand": false,
"transcript": "NM_001441102.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1090,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": null,
"cds_end": null,
"cds_length": 3273,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917808.1",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1675+599C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587867.1",
"strand": false,
"transcript": "ENST00000917808.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1019,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": null,
"cds_end": null,
"cds_length": 3060,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318339.4",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1462+599C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305268.1",
"strand": false,
"transcript": "NM_001318339.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1019,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4044,
"cdna_start": null,
"cds_end": null,
"cds_length": 3060,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883715.1",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1462+599C>T",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553774.1",
"strand": false,
"transcript": "ENST00000883715.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2967,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "NM_001441103.1",
"gene_hgnc_id": 19752,
"gene_symbol": "FNBP4",
"hgvs_c": "c.1369+599C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001428032.1",
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"transcript": "NM_001441103.1",
"transcript_support_level": null
},
{
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],
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"feature": "NM_001441104.1",
"gene_hgnc_id": 19752,
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},
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],
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},
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],
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"feature": "NM_001441108.1",
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},
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],
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"feature": "NM_001441109.1",
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"protein_id": "NP_001428038.1",
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},
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],
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"feature": "NM_001441110.1",
"gene_hgnc_id": 19752,
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},
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"consequences": [
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],
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"feature": "NM_001441113.1",
"gene_hgnc_id": 19752,
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"protein_coding": true,
"protein_id": "NP_001428042.1",
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"transcript": "NM_001441113.1",
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},
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"consequences": [
"intron_variant"
],
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"feature": "NM_001441114.1",
"gene_hgnc_id": 19752,
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"protein_coding": true,
"protein_id": "NP_001428043.1",
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},
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