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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: 16-71475876-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=71475876&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 71475876,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000288177.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF19",
"gene_hgnc_id": 12981,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "NM_006961.4",
"protein_id": "NP_008892.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 458,
"cds_start": 671,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "ENST00000288177.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF19",
"gene_hgnc_id": 12981,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000288177.10",
"protein_id": "ENSP00000288177.5",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 458,
"cds_start": 671,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "NM_006961.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261611",
"gene_hgnc_id": null,
"hgvs_c": "n.274+2352G>A",
"hgvs_p": null,
"transcript": "ENST00000561908.1",
"protein_id": "ENSP00000463741.1",
"transcript_support_level": 2,
"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": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF19",
"gene_hgnc_id": 12981,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000564230.5",
"protein_id": "ENSP00000458105.1",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 458,
"cds_start": 671,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF19",
"gene_hgnc_id": 12981,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182Gln",
"transcript": "ENST00000565637.5",
"protein_id": "ENSP00000454864.1",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 416,
"cds_start": 545,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ZNF19",
"gene_hgnc_id": 12981,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000565100.6",
"protein_id": "ENSP00000462810.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 388,
"cds_start": 461,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF19",
"gene_hgnc_id": 12981,
"hgvs_c": "n.*628G>A",
"hgvs_p": null,
"transcript": "ENST00000569717.5",
"protein_id": "ENSP00000456143.1",
"transcript_support_level": 2,
"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": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF19",
"gene_hgnc_id": 12981,
"hgvs_c": "n.*628G>A",
"hgvs_p": null,
"transcript": "ENST00000569717.5",
"protein_id": "ENSP00000456143.1",
"transcript_support_level": 2,
"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": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF19",
"gene_hgnc_id": 12981,
"hgvs_c": "c.274+2352G>A",
"hgvs_p": null,
"transcript": "ENST00000567225.5",
"protein_id": "ENSP00000462566.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2838,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261611",
"gene_hgnc_id": null,
"hgvs_c": "n.238+2352G>A",
"hgvs_p": null,
"transcript": "ENST00000648971.1",
"protein_id": "ENSP00000497725.1",
"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": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF19",
"gene_hgnc_id": 12981,
"dbsnp": "rs10500557",
"frequency_reference_population": 0.02733083,
"hom_count_reference_population": 784,
"allele_count_reference_population": 44079,
"gnomad_exomes_af": 0.0279631,
"gnomad_genomes_af": 0.0212342,
"gnomad_exomes_ac": 40861,
"gnomad_genomes_ac": 3218,
"gnomad_exomes_homalt": 733,
"gnomad_genomes_homalt": 51,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0020115673542022705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.2362,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.06,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000288177.10",
"gene_symbol": "ZNF19",
"hgnc_id": 12981,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000561908.1",
"gene_symbol": "ENSG00000261611",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.274+2352G>A",
"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
}