← Back to variant description
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: 17-9632898-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=9632898&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 9632898,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000352665.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Asp395Asp",
"transcript": "NM_145054.5",
"protein_id": "NP_659491.4",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 620,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": "ENST00000352665.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Asp395Asp",
"transcript": "ENST00000352665.10",
"protein_id": "ENSP00000339449.5",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 620,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": "NM_145054.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.981C>T",
"hgvs_p": "p.Asp327Asp",
"transcript": "NM_001080556.2",
"protein_id": "NP_001074025.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 552,
"cds_start": 981,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.981C>T",
"hgvs_p": "p.Asp327Asp",
"transcript": "ENST00000396219.7",
"protein_id": "ENSP00000379521.3",
"transcript_support_level": 2,
"aa_start": 327,
"aa_end": null,
"aa_length": 552,
"cds_start": 981,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Asp395Asp",
"transcript": "XM_047435437.1",
"protein_id": "XP_047291393.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 627,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.981C>T",
"hgvs_p": "p.Asp327Asp",
"transcript": "XM_047435438.1",
"protein_id": "XP_047291394.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 559,
"cds_start": 981,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.918C>T",
"hgvs_p": "p.Asp306Asp",
"transcript": "XM_047435439.1",
"protein_id": "XP_047291395.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 538,
"cds_start": 918,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.918C>T",
"hgvs_p": "p.Asp306Asp",
"transcript": "XM_017024227.2",
"protein_id": "XP_016879716.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 531,
"cds_start": 918,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "XM_047435440.1",
"protein_id": "XP_047291396.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 455,
"cds_start": 669,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "c.384C>T",
"hgvs_p": "p.Asp128Asp",
"transcript": "XM_047435441.1",
"protein_id": "XP_047291397.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 360,
"cds_start": 384,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "n.*1246C>T",
"hgvs_p": null,
"transcript": "ENST00000576630.5",
"protein_id": "ENSP00000458343.2",
"transcript_support_level": 2,
"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": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "n.*1246C>T",
"hgvs_p": null,
"transcript": "ENST00000576630.5",
"protein_id": "ENSP00000458343.2",
"transcript_support_level": 2,
"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": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"hgvs_c": "n.-68C>T",
"hgvs_p": null,
"transcript": "ENST00000576714.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFAP52",
"gene_hgnc_id": 16053,
"dbsnp": "rs149428354",
"frequency_reference_population": 0.005281843,
"hom_count_reference_population": 34,
"allele_count_reference_population": 8525,
"gnomad_exomes_af": 0.00538347,
"gnomad_genomes_af": 0.00430661,
"gnomad_exomes_ac": 7869,
"gnomad_genomes_ac": 656,
"gnomad_exomes_homalt": 30,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.331,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000352665.10",
"gene_symbol": "CFAP52",
"hgnc_id": 16053,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1185C>T",
"hgvs_p": "p.Asp395Asp"
}
],
"clinvar_disease": "Situs inversus,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Situs inversus|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}