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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: 19-57357269-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=57357269&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 57357269,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001290318.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "K",
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1400T>A",
"hgvs_p": "p.Ile467Lys",
"transcript": "NM_020657.4",
"protein_id": "NP_065708.2",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 659,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282286.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020657.4"
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": true,
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1400T>A",
"hgvs_p": "p.Ile467Lys",
"transcript": "ENST00000282286.6",
"protein_id": "ENSP00000282286.4",
"transcript_support_level": 2,
"aa_start": 467,
"aa_end": null,
"aa_length": 659,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020657.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282286.6"
},
{
"aa_ref": "I",
"aa_alt": "K",
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1541T>A",
"hgvs_p": "p.Ile514Lys",
"transcript": "ENST00000443917.6",
"protein_id": "ENSP00000401642.2",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 706,
"cds_start": 1541,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443917.6"
},
{
"aa_ref": "I",
"aa_alt": "K",
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1274T>A",
"hgvs_p": "p.Ile425Lys",
"transcript": "ENST00000598744.1",
"protein_id": "ENSP00000470319.1",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 617,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598744.1"
},
{
"aa_ref": "I",
"aa_alt": "K",
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1541T>A",
"hgvs_p": "p.Ile514Lys",
"transcript": "NM_001290318.2",
"protein_id": "NP_001277247.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 706,
"cds_start": 1541,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290318.2"
},
{
"aa_ref": "I",
"aa_alt": "K",
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1400T>A",
"hgvs_p": "p.Ile467Lys",
"transcript": "ENST00000391705.7",
"protein_id": "ENSP00000375586.3",
"transcript_support_level": 5,
"aa_start": 467,
"aa_end": null,
"aa_length": 659,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391705.7"
},
{
"aa_ref": "I",
"aa_alt": "K",
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1274T>A",
"hgvs_p": "p.Ile425Lys",
"transcript": "NM_001290319.2",
"protein_id": "NP_001277248.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 617,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290319.2"
},
{
"aa_ref": "I",
"aa_alt": "K",
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1124T>A",
"hgvs_p": "p.Ile375Lys",
"transcript": "NM_001329456.2",
"protein_id": "NP_001316385.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 567,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329456.2"
},
{
"aa_ref": "I",
"aa_alt": "K",
"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": "ZNF304",
"gene_hgnc_id": 13505,
"hgvs_c": "c.1415T>A",
"hgvs_p": "p.Ile472Lys",
"transcript": "XM_011527145.3",
"protein_id": "XP_011525447.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 664,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527145.3"
}
],
"gene_symbol": "ZNF304",
"gene_hgnc_id": 13505,
"dbsnp": "rs193920881",
"frequency_reference_population": 6.8405257e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-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": 0.066351979970932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.4727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.683,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001290318.2",
"gene_symbol": "ZNF304",
"hgnc_id": 13505,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1541T>A",
"hgvs_p": "p.Ile514Lys"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}