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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: 20-17481830-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=17481830&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 17481830,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002594.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1677G>A",
"hgvs_p": "p.Thr559Thr",
"transcript": "NM_002594.5",
"protein_id": "NP_002585.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 638,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262545.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002594.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1677G>A",
"hgvs_p": "p.Thr559Thr",
"transcript": "ENST00000262545.7",
"protein_id": "ENSP00000262545.2",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 638,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002594.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262545.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1620G>A",
"hgvs_p": "p.Thr540Thr",
"transcript": "ENST00000377899.5",
"protein_id": "ENSP00000367131.1",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 619,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377899.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1674G>A",
"hgvs_p": "p.Thr558Thr",
"transcript": "ENST00000947703.1",
"protein_id": "ENSP00000617762.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 637,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947703.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1620G>A",
"hgvs_p": "p.Thr540Thr",
"transcript": "NM_001201528.2",
"protein_id": "NP_001188457.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 619,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201528.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Thr524Thr",
"transcript": "NM_001201529.3",
"protein_id": "NP_001188458.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 603,
"cds_start": 1572,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201529.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Thr524Thr",
"transcript": "ENST00000536609.1",
"protein_id": "ENSP00000437458.1",
"transcript_support_level": 2,
"aa_start": 524,
"aa_end": null,
"aa_length": 603,
"cds_start": 1572,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536609.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1449G>A",
"hgvs_p": "p.Thr483Thr",
"transcript": "ENST00000947705.1",
"protein_id": "ENSP00000617764.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 562,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947705.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "c.1416G>A",
"hgvs_p": "p.Thr472Thr",
"transcript": "ENST00000947704.1",
"protein_id": "ENSP00000617763.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 551,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"hgvs_c": "n.2368G>A",
"hgvs_p": null,
"transcript": "ENST00000459871.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000459871.1"
}
],
"gene_symbol": "PCSK2",
"gene_hgnc_id": 8744,
"dbsnp": "rs11907317",
"frequency_reference_population": 0.0008066225,
"hom_count_reference_population": 7,
"allele_count_reference_population": 1302,
"gnomad_exomes_af": 0.000484305,
"gnomad_genomes_af": 0.00390148,
"gnomad_exomes_ac": 708,
"gnomad_genomes_ac": 594,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.595,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002594.5",
"gene_symbol": "PCSK2",
"hgnc_id": 8744,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1677G>A",
"hgvs_p": "p.Thr559Thr"
}
],
"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
}