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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: 11-114234941-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=114234941&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": "ZBTB16",
"hgnc_id": 12930,
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_006006.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000256947",
"hgnc_id": null,
"hgvs_c": "n.57-23989C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000544925.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 89581,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 673,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8494,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006006.6",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335953.9",
"protein_coding": true,
"protein_id": "NP_005997.2",
"strand": true,
"transcript": "NM_006006.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 673,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8494,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335953.9",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006006.6",
"protein_coding": true,
"protein_id": "ENSP00000338157.4",
"strand": true,
"transcript": "ENST00000335953.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 673,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392996.2",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376721.2",
"strand": true,
"transcript": "ENST00000392996.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 714,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": null,
"cds_end": null,
"cds_length": 2145,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865551.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535610.1",
"strand": true,
"transcript": "ENST00000865551.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 697,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4155,
"cdna_start": null,
"cds_end": null,
"cds_length": 2094,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684612.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1526-7226G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507350.1",
"strand": true,
"transcript": "ENST00000684612.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 692,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": null,
"cds_end": null,
"cds_length": 2079,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865547.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-2343G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535606.1",
"strand": true,
"transcript": "ENST00000865547.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 689,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": null,
"cds_end": null,
"cds_length": 2070,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959059.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629118.1",
"strand": true,
"transcript": "ENST00000959059.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 673,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8400,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018011.3",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018011.1",
"strand": true,
"transcript": "NM_001018011.3",
"transcript_support_level": null
},
{
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"aa_length": 673,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8754,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354750.2",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341679.1",
"strand": true,
"transcript": "NM_001354750.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8375,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "NM_001354751.2",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341680.1",
"strand": true,
"transcript": "NM_001354751.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 4524,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000682278.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506794.1",
"strand": true,
"transcript": "ENST00000682278.1",
"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": "ENST00000682697.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
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"protein_coding": true,
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"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000682971.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506894.1",
"strand": true,
"transcript": "ENST00000682971.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000683318.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
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"protein_coding": true,
"protein_id": "ENSP00000508351.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000683554.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506953.1",
"strand": true,
"transcript": "ENST00000683554.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000684295.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507788.1",
"strand": true,
"transcript": "ENST00000684295.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000865543.1",
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"protein_coding": true,
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},
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],
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"feature": "ENST00000865544.1",
"gene_hgnc_id": 12930,
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"protein_coding": true,
"protein_id": "ENSP00000535603.1",
"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000865545.1",
"gene_hgnc_id": 12930,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000535604.1",
"strand": true,
"transcript": "ENST00000865545.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865546.1",
"gene_hgnc_id": 12930,
"gene_symbol": "ZBTB16",
"hgvs_c": "c.1454-7226G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000535605.1",
"strand": true,
"transcript": "ENST00000865546.1",
"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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"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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