← 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: 2-171793655-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=171793655&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 171793655,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000422440.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1418G>A",
"hgvs_p": "p.Arg473Gln",
"transcript": "NM_003705.5",
"protein_id": "NP_003696.2",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 678,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": "ENST00000422440.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1418G>A",
"hgvs_p": "p.Arg473Gln",
"transcript": "ENST00000422440.7",
"protein_id": "ENSP00000388658.2",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 678,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": "NM_003705.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382Gln",
"transcript": "XM_047446142.1",
"protein_id": "XP_047302098.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 587,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.*1038G>A",
"hgvs_p": null,
"transcript": "ENST00000263812.8",
"protein_id": "ENSP00000263812.4",
"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": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.1332G>A",
"hgvs_p": null,
"transcript": "NR_047549.2",
"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": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"hgvs_c": "n.*1038G>A",
"hgvs_p": null,
"transcript": "ENST00000263812.8",
"protein_id": "ENSP00000263812.4",
"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": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A12",
"gene_hgnc_id": 10982,
"dbsnp": "rs35565687",
"frequency_reference_population": 0.03917845,
"hom_count_reference_population": 1478,
"allele_count_reference_population": 63233,
"gnomad_exomes_af": 0.0400276,
"gnomad_genomes_af": 0.0310246,
"gnomad_exomes_ac": 58510,
"gnomad_genomes_ac": 4723,
"gnomad_exomes_homalt": 1374,
"gnomad_genomes_homalt": 104,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002148836851119995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.1231,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.303,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000422440.7",
"gene_symbol": "SLC25A12",
"hgnc_id": 10982,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1418G>A",
"hgvs_p": "p.Arg473Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}