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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: 6-53082561-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=53082561&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 53082561,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012347.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO9",
"gene_hgnc_id": 13588,
"hgvs_c": "c.596A>T",
"hgvs_p": "p.Asp199Val",
"transcript": "NM_033480.3",
"protein_id": "NP_258441.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 437,
"cds_start": 596,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323557.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033480.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO9",
"gene_hgnc_id": 13588,
"hgvs_c": "c.596A>T",
"hgvs_p": "p.Asp199Val",
"transcript": "ENST00000323557.12",
"protein_id": "ENSP00000326968.7",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 437,
"cds_start": 596,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033480.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323557.12"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO9",
"gene_hgnc_id": 13588,
"hgvs_c": "c.626A>T",
"hgvs_p": "p.Asp209Val",
"transcript": "ENST00000244426.10",
"protein_id": "ENSP00000244426.6",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 447,
"cds_start": 626,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244426.10"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO9",
"gene_hgnc_id": 13588,
"hgvs_c": "c.494A>T",
"hgvs_p": "p.Asp165Val",
"transcript": "ENST00000370939.7",
"protein_id": "ENSP00000359977.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 403,
"cds_start": 494,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370939.7"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO9",
"gene_hgnc_id": 13588,
"hgvs_c": "c.626A>T",
"hgvs_p": "p.Asp209Val",
"transcript": "NM_012347.4",
"protein_id": "NP_036479.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 447,
"cds_start": 626,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012347.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO9",
"gene_hgnc_id": 13588,
"hgvs_c": "c.494A>T",
"hgvs_p": "p.Asp165Val",
"transcript": "NM_033481.3",
"protein_id": "NP_258442.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 403,
"cds_start": 494,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033481.3"
},
{
"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": "FBXO9",
"gene_hgnc_id": 13588,
"hgvs_c": "n.377A>T",
"hgvs_p": null,
"transcript": "ENST00000480463.6",
"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": "retained_intron",
"feature": "ENST00000480463.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO9",
"gene_hgnc_id": 13588,
"hgvs_c": "n.223A>T",
"hgvs_p": null,
"transcript": "ENST00000484812.1",
"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": "retained_intron",
"feature": "ENST00000484812.1"
}
],
"gene_symbol": "FBXO9",
"gene_hgnc_id": 13588,
"dbsnp": "rs1769350446",
"frequency_reference_population": 0.000006816954,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000478952,
"gnomad_genomes_af": 0.0000262985,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9302635192871094,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.79,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.175,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012347.4",
"gene_symbol": "FBXO9",
"hgnc_id": 13588,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.626A>T",
"hgvs_p": "p.Asp209Val"
}
],
"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
}