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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: 8-41932239-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=41932239&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 41932239,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006766.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"hgvs_c": "c.5981A>G",
"hgvs_p": "p.Lys1994Arg",
"transcript": "NM_006766.5",
"protein_id": "NP_006757.2",
"transcript_support_level": null,
"aa_start": 1994,
"aa_end": null,
"aa_length": 2004,
"cds_start": 5981,
"cds_end": null,
"cds_length": 6015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265713.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006766.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"hgvs_c": "c.5981A>G",
"hgvs_p": "p.Lys1994Arg",
"transcript": "ENST00000265713.8",
"protein_id": "ENSP00000265713.2",
"transcript_support_level": 1,
"aa_start": 1994,
"aa_end": null,
"aa_length": 2004,
"cds_start": 5981,
"cds_end": null,
"cds_length": 6015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006766.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265713.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"hgvs_c": "c.5987A>G",
"hgvs_p": "p.Lys1996Arg",
"transcript": "ENST00000406337.6",
"protein_id": "ENSP00000385888.2",
"transcript_support_level": 5,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2006,
"cds_start": 5987,
"cds_end": null,
"cds_length": 6021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406337.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"hgvs_c": "c.5981A>G",
"hgvs_p": "p.Lys1994Arg",
"transcript": "ENST00000396930.4",
"protein_id": "ENSP00000380136.3",
"transcript_support_level": 5,
"aa_start": 1994,
"aa_end": null,
"aa_length": 2004,
"cds_start": 5981,
"cds_end": null,
"cds_length": 6015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396930.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"hgvs_c": "c.5960A>G",
"hgvs_p": "p.Lys1987Arg",
"transcript": "ENST00000855880.1",
"protein_id": "ENSP00000525939.1",
"transcript_support_level": null,
"aa_start": 1987,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5960,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855880.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"hgvs_c": "c.5960A>G",
"hgvs_p": "p.Lys1987Arg",
"transcript": "ENST00000919320.1",
"protein_id": "ENSP00000589379.1",
"transcript_support_level": null,
"aa_start": 1987,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5960,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919320.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"hgvs_c": "c.5960A>G",
"hgvs_p": "p.Lys1987Arg",
"transcript": "ENST00000967392.1",
"protein_id": "ENSP00000637451.1",
"transcript_support_level": null,
"aa_start": 1987,
"aa_end": null,
"aa_length": 1997,
"cds_start": 5960,
"cds_end": null,
"cds_length": 5994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967392.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"hgvs_c": "c.4661A>G",
"hgvs_p": "p.Lys1554Arg",
"transcript": "ENST00000649817.1",
"protein_id": "ENSP00000497780.1",
"transcript_support_level": null,
"aa_start": 1554,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4661,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649817.1"
}
],
"gene_symbol": "KAT6A",
"gene_hgnc_id": 13013,
"dbsnp": "rs1469562059",
"frequency_reference_population": 6.8555227e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85552e-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": 0.33082130551338196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.2124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.862,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BP6_Moderate",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006766.5",
"gene_symbol": "KAT6A",
"hgnc_id": 13013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5981A>G",
"hgvs_p": "p.Lys1994Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}