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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: 19-45712886-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45712886&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45712886,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001080469.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "NM_001080469.2",
"protein_id": "NP_001073938.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317683.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080469.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "ENST00000317683.4",
"protein_id": "ENSP00000410007.1",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080469.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317683.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "NM_001329632.1",
"protein_id": "NP_001316561.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"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_001329632.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "NM_001329633.2",
"protein_id": "NP_001316562.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"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_001329633.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "NM_001329634.1",
"protein_id": "NP_001316563.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"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_001329634.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "ENST00000925224.1",
"protein_id": "ENSP00000595283.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"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": "ENST00000925224.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "ENST00000925225.1",
"protein_id": "ENSP00000595284.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"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": "ENST00000925225.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "ENST00000925226.1",
"protein_id": "ENSP00000595285.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"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": "ENST00000925226.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "XM_047438538.1",
"protein_id": "XP_047294494.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"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": "XM_047438538.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "XM_047438539.1",
"protein_id": "XP_047294495.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 603,
"cds_start": 610,
"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": "XM_047438539.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"hgvs_c": "c.*58G>A",
"hgvs_p": null,
"transcript": "ENST00000586899.1",
"protein_id": "ENSP00000468336.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586899.1"
}
],
"gene_symbol": "FBXO46",
"gene_hgnc_id": 25069,
"dbsnp": "rs375383163",
"frequency_reference_population": 0.00006260685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 101,
"gnomad_exomes_af": 0.0000657062,
"gnomad_genomes_af": 0.0000328532,
"gnomad_exomes_ac": 96,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028689533472061157,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.524,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001080469.2",
"gene_symbol": "FBXO46",
"hgnc_id": 25069,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr"
}
],
"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
}