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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: 10-132808571-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132808571&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 132808571,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001200049.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7998T>A",
"hgvs_p": "p.Ser2666Ser",
"transcript": "NM_001200049.3",
"protein_id": "NP_001186978.2",
"transcript_support_level": null,
"aa_start": 2666,
"aa_end": null,
"aa_length": 2715,
"cds_start": 7998,
"cds_end": null,
"cds_length": 8148,
"cdna_start": 8084,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": "ENST00000368586.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.7998T>A",
"hgvs_p": "p.Ser2666Ser",
"transcript": "ENST00000368586.10",
"protein_id": "ENSP00000357575.4",
"transcript_support_level": 5,
"aa_start": 2666,
"aa_end": null,
"aa_length": 2715,
"cds_start": 7998,
"cds_end": null,
"cds_length": 8148,
"cdna_start": 8084,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": "NM_001200049.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.8022T>A",
"hgvs_p": "p.Ser2674Ser",
"transcript": "XM_047425386.1",
"protein_id": "XP_047281342.1",
"transcript_support_level": null,
"aa_start": 2674,
"aa_end": null,
"aa_length": 2723,
"cds_start": 8022,
"cds_end": null,
"cds_length": 8172,
"cdna_start": 8108,
"cdna_end": null,
"cdna_length": 8287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.8019T>A",
"hgvs_p": "p.Ser2673Ser",
"transcript": "XM_047425387.1",
"protein_id": "XP_047281343.1",
"transcript_support_level": null,
"aa_start": 2673,
"aa_end": null,
"aa_length": 2722,
"cds_start": 8019,
"cds_end": null,
"cds_length": 8169,
"cdna_start": 8105,
"cdna_end": null,
"cdna_length": 8284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.8001T>A",
"hgvs_p": "p.Ser2667Ser",
"transcript": "XM_047425388.1",
"protein_id": "XP_047281344.1",
"transcript_support_level": null,
"aa_start": 2667,
"aa_end": null,
"aa_length": 2716,
"cds_start": 8001,
"cds_end": null,
"cds_length": 8151,
"cdna_start": 8087,
"cdna_end": null,
"cdna_length": 8266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.*221T>A",
"hgvs_p": null,
"transcript": "ENST00000639072.2",
"protein_id": "ENSP00000491877.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2637,
"cds_start": -4,
"cds_end": null,
"cds_length": 7914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.*221T>A",
"hgvs_p": null,
"transcript": "XM_047425389.1",
"protein_id": "XP_047281345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2645,
"cds_start": -4,
"cds_end": null,
"cds_length": 7938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"hgvs_c": "c.*221T>A",
"hgvs_p": null,
"transcript": "XM_047425390.1",
"protein_id": "XP_047281346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2638,
"cds_start": -4,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFAP46",
"gene_hgnc_id": 25247,
"dbsnp": "rs781522715",
"frequency_reference_population": 0.000002480248,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205406,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.602,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001200049.3",
"gene_symbol": "CFAP46",
"hgnc_id": 25247,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7998T>A",
"hgvs_p": "p.Ser2666Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}