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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: 14-23100669-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23100669&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23100669,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001354640.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.1992T>G",
"hgvs_p": "p.His664Gln",
"transcript": "NM_001354640.2",
"protein_id": "NP_001341569.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 788,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000637218.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354640.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.1992T>G",
"hgvs_p": "p.His664Gln",
"transcript": "ENST00000637218.2",
"protein_id": "ENSP00000489869.1",
"transcript_support_level": 5,
"aa_start": 664,
"aa_end": null,
"aa_length": 788,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001354640.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637218.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.1827T>G",
"hgvs_p": "p.His609Gln",
"transcript": "NM_001402427.1",
"protein_id": "NP_001389356.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 733,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001402427.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.1818T>G",
"hgvs_p": "p.His606Gln",
"transcript": "ENST00000644000.1",
"protein_id": "ENSP00000493582.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 730,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644000.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.1470T>G",
"hgvs_p": "p.His490Gln",
"transcript": "ENST00000642668.1",
"protein_id": "ENSP00000495729.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 614,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642668.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "c.1428T>G",
"hgvs_p": "p.His476Gln",
"transcript": "ENST00000940842.1",
"protein_id": "ENSP00000610901.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 600,
"cds_start": 1428,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940842.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"hgvs_c": "n.2233T>G",
"hgvs_p": null,
"transcript": "ENST00000644147.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000644147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf119",
"gene_hgnc_id": 20270,
"hgvs_c": "c.*2588A>C",
"hgvs_p": null,
"transcript": "NM_017924.4",
"protein_id": "NP_060394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319074.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017924.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf119",
"gene_hgnc_id": 20270,
"hgvs_c": "c.*2588A>C",
"hgvs_p": null,
"transcript": "ENST00000319074.6",
"protein_id": "ENSP00000322238.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017924.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319074.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf119",
"gene_hgnc_id": 20270,
"hgvs_c": "c.*2588A>C",
"hgvs_p": null,
"transcript": "XM_017021390.3",
"protein_id": "XP_016876879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021390.3"
}
],
"gene_symbol": "CIROP",
"gene_hgnc_id": 53647,
"dbsnp": "rs187174627",
"frequency_reference_population": 0.00072407123,
"hom_count_reference_population": 1,
"allele_count_reference_population": 289,
"gnomad_exomes_af": 0.000190418,
"gnomad_genomes_af": 0.00158891,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 242,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012764394283294678,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.2018,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.41,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_001354640.2",
"gene_symbol": "CIROP",
"hgnc_id": 53647,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1992T>G",
"hgvs_p": "p.His664Gln"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_017924.4",
"gene_symbol": "C14orf119",
"hgnc_id": 20270,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*2588A>C",
"hgvs_p": null
}
],
"clinvar_disease": "CIROP-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CIROP-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}