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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: 19-11867596-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11867596&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11867596,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001348718.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.542A>G",
"hgvs_p": "p.Gln181Arg",
"transcript": "NM_001348719.2",
"protein_id": "NP_001335648.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 504,
"cds_start": 542,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682736.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348719.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.542A>G",
"hgvs_p": "p.Gln181Arg",
"transcript": "ENST00000682736.1",
"protein_id": "ENSP00000506930.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 504,
"cds_start": 542,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001348719.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682736.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.527A>G",
"hgvs_p": "p.Gln176Arg",
"transcript": "ENST00000304030.2",
"protein_id": "ENSP00000305077.2",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 499,
"cds_start": 527,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304030.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Gln40Arg",
"transcript": "ENST00000455282.1",
"protein_id": "ENSP00000395632.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 363,
"cds_start": 119,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455282.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.551A>G",
"hgvs_p": "p.Gln184Arg",
"transcript": "NM_001348718.2",
"protein_id": "NP_001335647.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 507,
"cds_start": 551,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348718.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.527A>G",
"hgvs_p": "p.Gln176Arg",
"transcript": "NM_152262.3",
"protein_id": "NP_689475.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 499,
"cds_start": 527,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152262.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.Gln163Arg",
"transcript": "NM_001348720.2",
"protein_id": "NP_001335649.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 486,
"cds_start": 488,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348720.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.Gln163Arg",
"transcript": "NM_001348721.2",
"protein_id": "NP_001335650.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 486,
"cds_start": 488,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348721.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "NM_001348722.2",
"protein_id": "NP_001335651.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 452,
"cds_start": 386,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348722.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.386A>G",
"hgvs_p": "p.Gln129Arg",
"transcript": "NM_001348723.2",
"protein_id": "NP_001335652.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 452,
"cds_start": 386,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348723.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Gln40Arg",
"transcript": "NM_001348724.2",
"protein_id": "NP_001335653.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 363,
"cds_start": 119,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348724.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.119A>G",
"hgvs_p": "p.Gln40Arg",
"transcript": "NM_001348725.2",
"protein_id": "NP_001335654.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 363,
"cds_start": 119,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348725.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.527A>G",
"hgvs_p": "p.Gln176Arg",
"transcript": "XM_047439651.1",
"protein_id": "XP_047295607.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 499,
"cds_start": 527,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "n.120-15955A>G",
"hgvs_p": null,
"transcript": "ENST00000592534.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000592534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"hgvs_c": "c.*134A>G",
"hgvs_p": null,
"transcript": "ENST00000442091.5",
"protein_id": "ENSP00000388234.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 117,
"cds_start": null,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442091.5"
}
],
"gene_symbol": "ZNF439",
"gene_hgnc_id": 20873,
"dbsnp": "rs780301413",
"frequency_reference_population": 6.840666e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84067e-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": 0.09823757410049438,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0738,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.534,
"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_001348718.2",
"gene_symbol": "ZNF439",
"hgnc_id": 20873,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.551A>G",
"hgvs_p": "p.Gln184Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}