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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: 22-32479203-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=32479203&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 32479203,
"ref": "G",
"alt": "C",
"effect": "start_lost",
"transcript": "NM_001257990.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.345G>C",
"hgvs_p": "p.Met115Ile",
"transcript": "NM_012179.4",
"protein_id": "NP_036311.3",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 522,
"cds_start": 345,
"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": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.345G>C",
"hgvs_p": "p.Met115Ile",
"transcript": "ENST00000266087.12",
"protein_id": "ENSP00000266087.7",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 522,
"cds_start": 345,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "NM_001257990.2",
"protein_id": "NP_001244919.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 408,
"cds_start": 3,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000397426.5",
"protein_id": "ENSP00000380571.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 408,
"cds_start": 3,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000444207.1",
"protein_id": "ENSP00000404388.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 53,
"cds_start": 3,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444207.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.345G>C",
"hgvs_p": "p.Met115Ile",
"transcript": "ENST00000886524.1",
"protein_id": "ENSP00000556583.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 528,
"cds_start": 345,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.345G>C",
"hgvs_p": "p.Met115Ile",
"transcript": "ENST00000920428.1",
"protein_id": "ENSP00000590487.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 522,
"cds_start": 345,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.345G>C",
"hgvs_p": "p.Met115Ile",
"transcript": "ENST00000886522.1",
"protein_id": "ENSP00000556581.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 490,
"cds_start": 345,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.345G>C",
"hgvs_p": "p.Met115Ile",
"transcript": "ENST00000886523.1",
"protein_id": "ENSP00000556582.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 446,
"cds_start": 345,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "NM_001033024.2",
"protein_id": "NP_001028196.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 443,
"cds_start": 108,
"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": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "c.108G>C",
"hgvs_p": "p.Met36Ile",
"transcript": "ENST00000452138.3",
"protein_id": "ENSP00000388547.2",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 443,
"cds_start": 108,
"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": 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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.*43G>C",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.385G>C",
"hgvs_p": null,
"transcript": "ENST00000465418.1",
"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": "pseudogene",
"feature": "ENST00000465418.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.181G>C",
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.*43G>C",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"hgvs_c": "n.122+4079G>C",
"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"
}
],
"gene_symbol": "FBXO7",
"gene_hgnc_id": 13586,
"dbsnp": "rs11107",
"frequency_reference_population": 0.0000013680957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"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": 0.03767949342727661,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.0795,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.027,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,BP6_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001257990.2",
"gene_symbol": "FBXO7",
"hgnc_id": 13586,
"effects": [
"start_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?"
}
],
"clinvar_disease": "Parkinsonian-pyramidal syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Parkinsonian-pyramidal syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}