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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: 17-39868373-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39868373&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39868373,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000348931.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP2",
"gene_hgnc_id": 20678,
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Leu7Val",
"transcript": "NM_199321.3",
"protein_id": "NP_955353.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 338,
"cds_start": 19,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": "ENST00000348931.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP2",
"gene_hgnc_id": 20678,
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Leu7Val",
"transcript": "ENST00000348931.9",
"protein_id": "ENSP00000335384.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 338,
"cds_start": 19,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": "NM_199321.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP2",
"gene_hgnc_id": 20678,
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Leu7Val",
"transcript": "ENST00000377940.3",
"protein_id": "ENSP00000367174.3",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 316,
"cds_start": 19,
"cds_end": null,
"cds_length": 951,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP2",
"gene_hgnc_id": 20678,
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Leu7Val",
"transcript": "NM_198844.3",
"protein_id": "NP_942141.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 316,
"cds_start": 19,
"cds_end": null,
"cds_length": 951,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP2",
"gene_hgnc_id": 20678,
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Leu7Val",
"transcript": "ENST00000584588.5",
"protein_id": "ENSP00000462067.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 265,
"cds_start": 19,
"cds_end": null,
"cds_length": 798,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP2",
"gene_hgnc_id": 20678,
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Leu7Val",
"transcript": "ENST00000583811.5",
"protein_id": "ENSP00000462463.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 217,
"cds_start": 19,
"cds_end": null,
"cds_length": 656,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPBP2",
"gene_hgnc_id": 20678,
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Leu7Val",
"transcript": "XM_047435318.1",
"protein_id": "XP_047291274.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 245,
"cds_start": 19,
"cds_end": null,
"cds_length": 738,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302760",
"gene_hgnc_id": null,
"hgvs_c": "n.66+195G>C",
"hgvs_p": null,
"transcript": "ENST00000789355.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZPBP2",
"gene_hgnc_id": 20678,
"dbsnp": "rs11557466",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21296387910842896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.0985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.161,
"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": "ENST00000348931.9",
"gene_symbol": "ZPBP2",
"hgnc_id": 20678,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Leu7Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000789355.1",
"gene_symbol": "ENSG00000302760",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.66+195G>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
}