← 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: 22-32491163-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=32491163&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 32491163,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_012179.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Leu",
"transcript": "NM_012179.4",
"protein_id": "NP_036311.3",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 522,
"cds_start": 949,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266087.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012179.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Leu",
"transcript": "ENST00000266087.12",
"protein_id": "ENSP00000266087.7",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 522,
"cds_start": 949,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012179.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266087.12"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Leu",
"transcript": "ENST00000886524.1",
"protein_id": "ENSP00000556583.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 528,
"cds_start": 949,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886524.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Leu",
"transcript": "ENST00000920428.1",
"protein_id": "ENSP00000590487.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 522,
"cds_start": 949,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920428.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Leu241Leu",
"transcript": "ENST00000886523.1",
"protein_id": "ENSP00000556582.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 446,
"cds_start": 721,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886523.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Leu238Leu",
"transcript": "NM_001033024.2",
"protein_id": "NP_001028196.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 443,
"cds_start": 712,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033024.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Leu238Leu",
"transcript": "ENST00000452138.3",
"protein_id": "ENSP00000388547.2",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 443,
"cds_start": 712,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452138.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Leu203Leu",
"transcript": "NM_001257990.2",
"protein_id": "NP_001244919.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 408,
"cds_start": 607,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257990.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Leu203Leu",
"transcript": "ENST00000397426.5",
"protein_id": "ENSP00000380571.1",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 408,
"cds_start": 607,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397426.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.872-1942C>T",
"hgvs_p": null,
"transcript": "ENST00000886522.1",
"protein_id": "ENSP00000556581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.*528C>T",
"hgvs_p": null,
"transcript": "ENST00000420700.5",
"protein_id": "ENSP00000406155.1",
"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": "ENST00000420700.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.*647C>T",
"hgvs_p": null,
"transcript": "ENST00000425028.5",
"protein_id": "ENSP00000395823.1",
"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": "ENST00000425028.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.4042C>T",
"hgvs_p": null,
"transcript": "ENST00000492535.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000492535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.*528C>T",
"hgvs_p": null,
"transcript": "ENST00000420700.5",
"protein_id": "ENSP00000406155.1",
"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": "ENST00000420700.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.*647C>T",
"hgvs_p": null,
"transcript": "ENST00000425028.5",
"protein_id": "ENSP00000395823.1",
"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": "ENST00000425028.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.*50C>T",
"hgvs_p": null,
"transcript": "ENST00000484607.1",
"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": "ENST00000484607.1"
}
],
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"dbsnp": "rs9726",
"frequency_reference_population": 0.40335783,
"hom_count_reference_population": 136332,
"allele_count_reference_population": 648192,
"gnomad_exomes_af": 0.401999,
"gnomad_genomes_af": 0.416377,
"gnomad_exomes_ac": 584951,
"gnomad_genomes_ac": 63241,
"gnomad_exomes_homalt": 122668,
"gnomad_genomes_homalt": 13664,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.27000001072883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.363,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_012179.4",
"gene_symbol": "FBXO7",
"hgnc_id": 13586,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Leu"
}
],
"clinvar_disease": "Parkinsonian-pyramidal syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Parkinsonian-pyramidal syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}