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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: 10-132810455-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132810455&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 132810455,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368586.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7618A>T",
"hgvs_p": "p.Ser2540Cys",
"transcript": "NM_001200049.3",
"protein_id": "NP_001186978.2",
"transcript_support_level": null,
"aa_start": 2540,
"aa_end": null,
"aa_length": 2715,
"cds_start": 7618,
"cds_end": null,
"cds_length": 8148,
"cdna_start": 7704,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": "ENST00000368586.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7618A>T",
"hgvs_p": "p.Ser2540Cys",
"transcript": "ENST00000368586.10",
"protein_id": "ENSP00000357575.4",
"transcript_support_level": 5,
"aa_start": 2540,
"aa_end": null,
"aa_length": 2715,
"cds_start": 7618,
"cds_end": null,
"cds_length": 8148,
"cdna_start": 7704,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": "NM_001200049.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7642A>T",
"hgvs_p": "p.Ser2548Cys",
"transcript": "XM_047425386.1",
"protein_id": "XP_047281342.1",
"transcript_support_level": null,
"aa_start": 2548,
"aa_end": null,
"aa_length": 2723,
"cds_start": 7642,
"cds_end": null,
"cds_length": 8172,
"cdna_start": 7728,
"cdna_end": null,
"cdna_length": 8287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7639A>T",
"hgvs_p": "p.Ser2547Cys",
"transcript": "XM_047425387.1",
"protein_id": "XP_047281343.1",
"transcript_support_level": null,
"aa_start": 2547,
"aa_end": null,
"aa_length": 2722,
"cds_start": 7639,
"cds_end": null,
"cds_length": 8169,
"cdna_start": 7725,
"cdna_end": null,
"cdna_length": 8284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7621A>T",
"hgvs_p": "p.Ser2541Cys",
"transcript": "XM_047425388.1",
"protein_id": "XP_047281344.1",
"transcript_support_level": null,
"aa_start": 2541,
"aa_end": null,
"aa_length": 2716,
"cds_start": 7621,
"cds_end": null,
"cds_length": 8151,
"cdna_start": 7707,
"cdna_end": null,
"cdna_length": 8266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7755A>T",
"hgvs_p": "p.Thr2585Thr",
"transcript": "ENST00000639072.2",
"protein_id": "ENSP00000491877.2",
"transcript_support_level": 5,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7755,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 7841,
"cdna_end": null,
"cdna_length": 8349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7779A>T",
"hgvs_p": "p.Thr2593Thr",
"transcript": "XM_047425389.1",
"protein_id": "XP_047281345.1",
"transcript_support_level": null,
"aa_start": 2593,
"aa_end": null,
"aa_length": 2645,
"cds_start": 7779,
"cds_end": null,
"cds_length": 7938,
"cdna_start": 7865,
"cdna_end": null,
"cdna_length": 8424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7758A>T",
"hgvs_p": "p.Thr2586Thr",
"transcript": "XM_047425390.1",
"protein_id": "XP_047281346.1",
"transcript_support_level": null,
"aa_start": 2586,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7758,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 7844,
"cdna_end": null,
"cdna_length": 8403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "n.*250A>T",
"hgvs_p": null,
"transcript": "XR_007061969.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"dbsnp": "rs2254419",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84315e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0888252854347229,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.0669,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.43,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000368586.10",
"gene_symbol": "CFAP46",
"hgnc_id": 25247,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7618A>T",
"hgvs_p": "p.Ser2540Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}