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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: 2-230010763-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230010763&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230010763,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_174899.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Val149Ala",
"transcript": "NM_174899.5",
"protein_id": "NP_777559.3",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 188,
"cds_start": 446,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283946.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174899.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Val149Ala",
"transcript": "ENST00000283946.8",
"protein_id": "ENSP00000283946.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 188,
"cds_start": 446,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174899.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283946.8"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"transcript": "ENST00000373652.7",
"protein_id": "ENSP00000362756.3",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 157,
"cds_start": 353,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373652.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Val174Ala",
"transcript": "ENST00000943498.1",
"protein_id": "ENSP00000613557.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 213,
"cds_start": 521,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943498.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Val129Ala",
"transcript": "ENST00000409992.1",
"protein_id": "ENSP00000386673.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 168,
"cds_start": 386,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409992.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Val124Ala",
"transcript": "XM_005246317.3",
"protein_id": "XP_005246374.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 163,
"cds_start": 371,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246317.3"
}
],
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"dbsnp": "rs1431982848",
"frequency_reference_population": 0.0000142520585,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000143676,
"gnomad_genomes_af": 0.000013142,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14319384098052979,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.3358,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.157,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_174899.5",
"gene_symbol": "FBXO36",
"hgnc_id": 27020,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.446T>C",
"hgvs_p": "p.Val149Ala"
}
],
"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
}