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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: 15-90873320-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90873320&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FURIN",
"hgnc_id": 8568,
"hgvs_c": "c.-159-2262C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002569.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6700000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002569.4",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-159-2262C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268171.8",
"protein_coding": true,
"protein_id": "NP_002560.1",
"strand": true,
"transcript": "NM_002569.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000268171.8",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-159-2262C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002569.4",
"protein_coding": true,
"protein_id": "ENSP00000268171.2",
"strand": true,
"transcript": "ENST00000268171.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5864,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000916028.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-1499C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586087.1",
"strand": true,
"transcript": "ENST00000916028.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000916029.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-187C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586088.1",
"strand": true,
"transcript": "ENST00000916029.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5864,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000916028.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-1499C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586087.1",
"strand": true,
"transcript": "ENST00000916028.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000916029.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-187C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586088.1",
"strand": true,
"transcript": "ENST00000916029.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 815,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": null,
"cds_end": null,
"cds_length": 2448,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853383.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+1094C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523442.1",
"strand": true,
"transcript": "ENST00000853383.1",
"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": 4223,
"cdna_start": null,
"cds_end": null,
"cds_length": 2418,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853380.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-159-2262C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523439.1",
"strand": true,
"transcript": "ENST00000853380.1",
"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": 4385,
"cdna_start": null,
"cds_end": null,
"cds_length": 2418,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853382.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+1094C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523441.1",
"strand": true,
"transcript": "ENST00000853382.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289823.2",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+1715C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276752.1",
"strand": true,
"transcript": "NM_001289823.2",
"transcript_support_level": null
},
{
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"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4368,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289824.2",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+222C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276753.1",
"strand": true,
"transcript": "NM_001289824.2",
"transcript_support_level": null
},
{
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"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382619.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+2170C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369548.1",
"strand": true,
"transcript": "NM_001382619.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "NM_001382620.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+1094C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369549.1",
"strand": true,
"transcript": "NM_001382620.1",
"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": 4343,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382621.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+247C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369550.1",
"strand": true,
"transcript": "NM_001382621.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000610579.4",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+1715C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484952.1",
"strand": true,
"transcript": "ENST00000610579.4",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618099.4",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+222C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483552.1",
"strand": true,
"transcript": "ENST00000618099.4",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4287,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680053.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+1094C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506143.1",
"strand": true,
"transcript": "ENST00000680053.1",
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},
{
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"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000853381.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+2170C>T",
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"protein_coding": true,
"protein_id": "ENSP00000523440.1",
"strand": true,
"transcript": "ENST00000853381.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000853384.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+247C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000523443.1",
"strand": true,
"transcript": "ENST00000853384.1",
"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": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916022.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-224-1275C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586081.1",
"strand": true,
"transcript": "ENST00000916022.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4171,
"cdna_start": null,
"cds_end": null,
"cds_length": 2370,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916027.1",
"gene_hgnc_id": 8568,
"gene_symbol": "FURIN",
"hgvs_c": "c.-160+1715C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586086.1",
"strand": true,
"transcript": "ENST00000916027.1",
"transcript_support_level": null
},
{
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