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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: 20-32143520-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32143520&ref=G&alt=A&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": "TM9SF4",
"hgnc_id": 30797,
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014742.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 15082,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 642,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": null,
"cds_end": null,
"cds_length": 1929,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014742.4",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398022.7",
"protein_coding": true,
"protein_id": "NP_055557.2",
"strand": true,
"transcript": "NM_014742.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 642,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": null,
"cds_end": null,
"cds_length": 1929,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398022.7",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014742.4",
"protein_coding": true,
"protein_id": "ENSP00000381104.2",
"strand": true,
"transcript": "ENST00000398022.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 704,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": null,
"cds_end": null,
"cds_length": 2115,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961366.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631425.1",
"strand": true,
"transcript": "ENST00000961366.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 678,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": null,
"cds_end": null,
"cds_length": 2037,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961364.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631423.1",
"strand": true,
"transcript": "ENST00000961364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3808,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860220.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530279.1",
"strand": true,
"transcript": "ENST00000860220.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860218.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530277.1",
"strand": true,
"transcript": "ENST00000860218.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 643,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3765,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860217.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530276.1",
"strand": true,
"transcript": "ENST00000860217.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 641,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3743,
"cdna_start": null,
"cds_end": null,
"cds_length": 1926,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860223.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.649+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530282.1",
"strand": true,
"transcript": "ENST00000860223.1",
"transcript_support_level": null
},
{
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"aa_length": 635,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860214.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530273.1",
"strand": true,
"transcript": "ENST00000860214.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 629,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911759.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581818.1",
"strand": true,
"transcript": "ENST00000911759.1",
"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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],
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"exon_rank": null,
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"feature": "ENST00000911758.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581817.1",
"strand": true,
"transcript": "ENST00000911758.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 18,
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"feature": "NM_001363731.2",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
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"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001350660.1",
"strand": true,
"transcript": "NM_001363731.2",
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},
{
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],
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"feature": "ENST00000217315.9",
"gene_hgnc_id": 30797,
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"protein_coding": true,
"protein_id": "ENSP00000217315.5",
"strand": true,
"transcript": "ENST00000217315.9",
"transcript_support_level": 2
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000961365.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.586+415G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631424.1",
"strand": true,
"transcript": "ENST00000961365.1",
"transcript_support_level": null
},
{
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],
"exon_count": 17,
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"feature": "ENST00000860213.1",
"gene_hgnc_id": 30797,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530272.1",
"strand": true,
"transcript": "ENST00000860213.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961363.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631422.1",
"strand": true,
"transcript": "ENST00000961363.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3673,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860212.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530271.1",
"strand": true,
"transcript": "ENST00000860212.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000961367.1",
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"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000860215.1",
"gene_hgnc_id": 30797,
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"protein_coding": true,
"protein_id": "ENSP00000530274.1",
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},
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"consequences": [
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],
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"feature": "ENST00000860221.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.652+415G>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530280.1",
"strand": true,
"transcript": "ENST00000860221.1",
"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,
"cds_length": 1785,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860222.1",
"gene_hgnc_id": 30797,
"gene_symbol": "TM9SF4",
"hgvs_c": "c.508+415G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530281.1",
"strand": true,
"transcript": "ENST00000860222.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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