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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: 11-114181182-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=114181182&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 114181182,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000335953.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "NM_006006.6",
"protein_id": "NP_005997.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": "ENST00000335953.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000335953.9",
"protein_id": "ENSP00000338157.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": "NM_006006.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000392996.2",
"protein_id": "ENSP00000376721.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.1615-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000541602.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1439-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000684612.1",
"protein_id": "ENSP00000507350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": -4,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "NM_001018011.3",
"protein_id": "NP_001018011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "NM_001354750.2",
"protein_id": "NP_001341679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "NM_001354751.2",
"protein_id": "NP_001341680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000682278.1",
"protein_id": "ENSP00000506794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000682697.1",
"protein_id": "ENSP00000506924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000682971.1",
"protein_id": "ENSP00000506894.1",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "ZBTB16",
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"hgvs_c": "c.1367-5770T>C",
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"transcript": "ENST00000683318.1",
"protein_id": "ENSP00000508351.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000683554.1",
"protein_id": "ENSP00000506953.1",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
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"transcript": "ENST00000684295.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1366+24748T>C",
"hgvs_p": null,
"transcript": "NM_001354752.1",
"protein_id": "NP_001341681.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1366+24748T>C",
"hgvs_p": null,
"transcript": "ENST00000682810.1",
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},
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.*186-5770T>C",
"hgvs_p": null,
"transcript": "ENST00000539918.5",
"protein_id": "ENSP00000445047.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.177+240T>C",
"hgvs_p": null,
"transcript": "ENST00000545851.5",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ZBTB16",
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"hgvs_c": "n.64-5770T>C",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "ZBTB16",
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"hgvs_c": "n.1367-5770T>C",
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"transcript": "ENST00000683233.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null,
"transcript": "XM_005271658.6",
"protein_id": "XP_005271715.1",
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"dbsnp": "rs2073848",
"frequency_reference_population": 0.12500821,
"hom_count_reference_population": 1490,
"allele_count_reference_population": 19036,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.125008,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 19036,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1490,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.063,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000335953.9",
"gene_symbol": "ZBTB16",
"hgnc_id": 12930,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1367-5770T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}