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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: 19-44264365-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44264365&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44264365,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_181756.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "NM_001207005.2",
"protein_id": "NP_001193934.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 670,
"cds_start": 5,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683810.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207005.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "ENST00000683810.1",
"protein_id": "ENSP00000507588.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 670,
"cds_start": 5,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001207005.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF235",
"gene_hgnc_id": 12866,
"hgvs_c": "c.239-27636G>T",
"hgvs_p": null,
"transcript": "ENST00000589799.5",
"protein_id": "ENSP00000468695.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589799.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "NM_181756.3",
"protein_id": "NP_861421.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 670,
"cds_start": 5,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181756.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "ENST00000391958.6",
"protein_id": "ENSP00000375820.1",
"transcript_support_level": 2,
"aa_start": 2,
"aa_end": null,
"aa_length": 670,
"cds_start": 5,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391958.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "ENST00000947741.1",
"protein_id": "ENSP00000617800.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 670,
"cds_start": 5,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947741.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "ENST00000947740.1",
"protein_id": "ENSP00000617799.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 669,
"cds_start": 5,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947740.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "ENST00000590668.5",
"protein_id": "ENSP00000466781.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 161,
"cds_start": 5,
"cds_end": null,
"cds_length": 488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590668.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "NM_001330529.2",
"protein_id": "NP_001317458.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 140,
"cds_start": 5,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330529.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "ENST00000592581.5",
"protein_id": "ENSP00000468154.1",
"transcript_support_level": 2,
"aa_start": 2,
"aa_end": null,
"aa_length": 140,
"cds_start": 5,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592581.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Thr59Asn",
"transcript": "ENST00000588489.5",
"protein_id": "ENSP00000465136.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 115,
"cds_start": 176,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588489.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "ENST00000589522.1",
"protein_id": "ENSP00000465307.1",
"transcript_support_level": 2,
"aa_start": 2,
"aa_end": null,
"aa_length": 83,
"cds_start": 5,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589522.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Thr59Asn",
"transcript": "XM_024451488.2",
"protein_id": "XP_024307256.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 727,
"cds_start": 176,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451488.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "XM_024451489.2",
"protein_id": "XP_024307257.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 670,
"cds_start": 5,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451489.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Thr59Asn",
"transcript": "XM_047438766.1",
"protein_id": "XP_047294722.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 211,
"cds_start": 176,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438766.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Thr59Asn",
"transcript": "XM_017026758.3",
"protein_id": "XP_016882247.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 197,
"cds_start": 176,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026758.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "XM_017026760.3",
"protein_id": "XP_016882249.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 140,
"cds_start": 5,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026760.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"hgvs_c": "c.176C>A",
"hgvs_p": "p.Thr59Asn",
"transcript": "XM_017026761.2",
"protein_id": "XP_016882250.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 140,
"cds_start": 176,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026761.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF235",
"gene_hgnc_id": 12866,
"hgvs_c": "n.239-29496G>T",
"hgvs_p": null,
"transcript": "ENST00000592844.5",
"protein_id": "ENSP00000465641.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000592844.5"
}
],
"gene_symbol": "ZNF233",
"gene_hgnc_id": 30946,
"dbsnp": "rs751891601",
"frequency_reference_population": 0.000022935808,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000212183,
"gnomad_genomes_af": 0.0000394228,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20792853832244873,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.1326,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.869,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181756.3",
"gene_symbol": "ZNF233",
"hgnc_id": 30946,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000589799.5",
"gene_symbol": "ZNF235",
"hgnc_id": 12866,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.239-27636G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}