← Back to variant description
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: 17-7462044-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7462044&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7462044,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020899.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "NM_001128833.2",
"protein_id": "NP_001122305.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380599.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128833.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000380599.9",
"protein_id": "ENSP00000369973.4",
"transcript_support_level": 1,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128833.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380599.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000311403.4",
"protein_id": "ENSP00000307858.4",
"transcript_support_level": 1,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311403.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "NM_020899.4",
"protein_id": "NP_065950.2",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020899.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907857.1",
"protein_id": "ENSP00000577916.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907857.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907858.1",
"protein_id": "ENSP00000577917.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907858.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907859.1",
"protein_id": "ENSP00000577918.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907859.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907860.1",
"protein_id": "ENSP00000577919.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907860.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907861.1",
"protein_id": "ENSP00000577920.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907861.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907862.1",
"protein_id": "ENSP00000577921.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907862.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907863.1",
"protein_id": "ENSP00000577922.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907863.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907864.1",
"protein_id": "ENSP00000577923.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907864.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907865.1",
"protein_id": "ENSP00000577924.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907865.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000907866.1",
"protein_id": "ENSP00000577925.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907866.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000949767.1",
"protein_id": "ENSP00000619826.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949767.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000949768.1",
"protein_id": "ENSP00000619827.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949768.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "ENST00000949769.1",
"protein_id": "ENSP00000619828.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949769.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "XM_006721563.4",
"protein_id": "XP_006721626.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721563.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "XM_006721564.3",
"protein_id": "XP_006721627.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721564.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr",
"transcript": "XM_047436481.1",
"protein_id": "XP_047292437.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436481.1"
}
],
"gene_symbol": "ZBTB4",
"gene_hgnc_id": 23847,
"dbsnp": "rs2070028218",
"frequency_reference_population": 6.902864e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90286e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030776917934417725,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0545,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.73,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020899.4",
"gene_symbol": "ZBTB4",
"hgnc_id": 23847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Ala980Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}