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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: 11-113739234-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=113739234&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 113739234,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004724.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Val578Ile",
"transcript": "NM_004724.4",
"protein_id": "NP_004715.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 779,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000200135.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004724.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Val578Ile",
"transcript": "ENST00000200135.8",
"protein_id": "ENSP00000200135.3",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 779,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004724.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000200135.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"hgvs_c": "c.1738G>A",
"hgvs_p": "p.Val580Ile",
"transcript": "ENST00000898961.1",
"protein_id": "ENSP00000569020.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 781,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898961.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"hgvs_c": "c.1726G>A",
"hgvs_p": "p.Val576Ile",
"transcript": "ENST00000936157.1",
"protein_id": "ENSP00000606216.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 777,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936157.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Val578Ile",
"transcript": "ENST00000946662.1",
"protein_id": "ENSP00000616721.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 735,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946662.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"transcript": "ENST00000898960.1",
"protein_id": "ENSP00000569019.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 715,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898960.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"transcript": "XM_017018558.3",
"protein_id": "XP_016874047.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 715,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018558.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"hgvs_c": "n.1732G>A",
"hgvs_p": null,
"transcript": "ENST00000535142.5",
"protein_id": "ENSP00000440879.1",
"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": "ENST00000535142.5"
}
],
"gene_symbol": "ZW10",
"gene_hgnc_id": 13194,
"dbsnp": "rs146035001",
"frequency_reference_population": 0.000004337685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410508,
"gnomad_genomes_af": 0.00000657194,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4840977191925049,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.222,
"revel_prediction": "Benign",
"alphamissense_score": 0.1242,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004724.4",
"gene_symbol": "ZW10",
"hgnc_id": 13194,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Val578Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}