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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: 10-5878158-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5878158&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5878158,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000380094.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD16",
"gene_hgnc_id": 23471,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Gln353Arg",
"transcript": "NM_019046.3",
"protein_id": "NP_061919.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 361,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": "ENST00000380094.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD16",
"gene_hgnc_id": 23471,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Gln353Arg",
"transcript": "ENST00000380094.10",
"protein_id": "ENSP00000369436.4",
"transcript_support_level": 2,
"aa_start": 353,
"aa_end": null,
"aa_length": 361,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": "NM_019046.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD16",
"gene_hgnc_id": 23471,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Gln353Arg",
"transcript": "ENST00000380092.8",
"protein_id": "ENSP00000369434.4",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 361,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 1646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD16",
"gene_hgnc_id": 23471,
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Gln353Arg",
"transcript": "NM_001009941.3",
"protein_id": "NP_001009941.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 361,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 1666,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD16",
"gene_hgnc_id": 23471,
"hgvs_c": "c.*64A>G",
"hgvs_p": null,
"transcript": "NM_001009943.3",
"protein_id": "NP_001009943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1587,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD16",
"gene_hgnc_id": 23471,
"hgvs_c": "c.*64A>G",
"hgvs_p": null,
"transcript": "ENST00000191063.8",
"protein_id": "ENSP00000352361.6",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANKRD16",
"gene_hgnc_id": 23471,
"dbsnp": "rs1052420",
"frequency_reference_population": 0.8605836,
"hom_count_reference_population": 599274,
"allele_count_reference_population": 1388951,
"gnomad_exomes_af": 0.864188,
"gnomad_genomes_af": 0.825963,
"gnomad_exomes_ac": 1263251,
"gnomad_genomes_ac": 125700,
"gnomad_exomes_homalt": 546958,
"gnomad_genomes_homalt": 52316,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.275913157580362e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.059,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380094.10",
"gene_symbol": "ANKRD16",
"hgnc_id": 23471,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1058A>G",
"hgvs_p": "p.Gln353Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}