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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: 11-33755940-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=33755940&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 33755940,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012175.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "NM_012175.4",
"protein_id": "NP_036307.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 471,
"cds_start": 509,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265651.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012175.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "ENST00000265651.8",
"protein_id": "ENSP00000265651.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 471,
"cds_start": 509,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012175.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265651.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "ENST00000448981.6",
"protein_id": "ENSP00000408836.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 415,
"cds_start": 509,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448981.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57His",
"transcript": "ENST00000526785.5",
"protein_id": "ENSP00000435680.1",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 358,
"cds_start": 170,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526785.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "n.537G>A",
"hgvs_p": null,
"transcript": "ENST00000530013.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000530013.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "ENST00000958856.1",
"protein_id": "ENSP00000628915.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 486,
"cds_start": 509,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958856.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "ENST00000873667.1",
"protein_id": "ENSP00000543726.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 477,
"cds_start": 509,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873667.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "ENST00000534136.5",
"protein_id": "ENSP00000431745.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 430,
"cds_start": 509,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534136.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "NM_033406.4",
"protein_id": "NP_208385.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 415,
"cds_start": 509,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033406.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Arg165His",
"transcript": "ENST00000530401.5",
"protein_id": "ENSP00000433781.1",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 410,
"cds_start": 494,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530401.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "XM_011519980.2",
"protein_id": "XP_011518282.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 479,
"cds_start": 509,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519980.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "XM_011519981.3",
"protein_id": "XP_011518283.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 415,
"cds_start": 509,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519981.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "c.23G>A",
"hgvs_p": "p.Arg8His",
"transcript": "XM_047426752.1",
"protein_id": "XP_047282708.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 317,
"cds_start": 23,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "n.474-1440G>A",
"hgvs_p": null,
"transcript": "ENST00000532927.5",
"protein_id": "ENSP00000434099.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000532927.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"hgvs_c": "n.*200G>A",
"hgvs_p": null,
"transcript": "ENST00000529137.1",
"protein_id": "ENSP00000431502.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000529137.1"
}
],
"gene_symbol": "FBXO3",
"gene_hgnc_id": 13582,
"dbsnp": null,
"frequency_reference_population": 0.0000020522334,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205223,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4958011209964752,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.299,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9661,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.523,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012175.4",
"gene_symbol": "FBXO3",
"hgnc_id": 13582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His"
}
],
"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
}