← Back to variant description
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: 1-166850259-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=166850259&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 166850259,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000367876.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1680T>G",
"hgvs_p": "p.Ser560Arg",
"transcript": "NM_017542.5",
"protein_id": "NP_060012.3",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 609,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": "ENST00000367876.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1680T>G",
"hgvs_p": "p.Ser560Arg",
"transcript": "ENST00000367876.9",
"protein_id": "ENSP00000356850.4",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 609,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 5751,
"mane_select": "NM_017542.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"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": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1680T>G",
"hgvs_p": "p.Ser560Arg",
"transcript": "ENST00000367875.1",
"protein_id": "ENSP00000356849.1",
"transcript_support_level": 5,
"aa_start": 560,
"aa_end": null,
"aa_length": 609,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 6254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1326T>G",
"hgvs_p": "p.Ser442Arg",
"transcript": "NM_001314014.2",
"protein_id": "NP_001300943.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 491,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 5525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1680T>G",
"hgvs_p": "p.Ser560Arg",
"transcript": "XM_005245370.5",
"protein_id": "XP_005245427.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 609,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 5916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1680T>G",
"hgvs_p": "p.Ser560Arg",
"transcript": "XM_011509814.3",
"protein_id": "XP_011508116.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 609,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 6274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"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": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1680T>G",
"hgvs_p": "p.Ser560Arg",
"transcript": "XM_017001914.3",
"protein_id": "XP_016857403.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 609,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"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": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1680T>G",
"hgvs_p": "p.Ser560Arg",
"transcript": "XM_047426196.1",
"protein_id": "XP_047282152.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 609,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1626T>G",
"hgvs_p": "p.Ser542Arg",
"transcript": "XM_011509815.3",
"protein_id": "XP_011508117.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 591,
"cds_start": 1626,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGK",
"gene_hgnc_id": 18800,
"hgvs_c": "c.1326T>G",
"hgvs_p": "p.Ser442Arg",
"transcript": "XM_017001915.2",
"protein_id": "XP_016857404.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 491,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POGK",
"gene_hgnc_id": 18800,
"dbsnp": "rs1451508955",
"frequency_reference_population": 0.0000014131259,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000141313,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09240362048149109,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.3535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.219,
"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": "ENST00000367876.9",
"gene_symbol": "POGK",
"hgnc_id": 18800,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1680T>G",
"hgvs_p": "p.Ser560Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}