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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: 10-17594310-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=17594310&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 17594310,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000361271.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACD1",
"gene_hgnc_id": 9639,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.His227Tyr",
"transcript": "NM_014241.4",
"protein_id": "NP_055056.3",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 288,
"cds_start": 679,
"cds_end": null,
"cds_length": 867,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": "ENST00000361271.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACD1",
"gene_hgnc_id": 9639,
"hgvs_c": "c.679C>T",
"hgvs_p": "p.His227Tyr",
"transcript": "ENST00000361271.8",
"protein_id": "ENSP00000355308.3",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 288,
"cds_start": 679,
"cds_end": null,
"cds_length": 867,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": "NM_014241.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACD1",
"gene_hgnc_id": 9639,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.His191Tyr",
"transcript": "XM_005252641.5",
"protein_id": "XP_005252698.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 252,
"cds_start": 571,
"cds_end": null,
"cds_length": 759,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2126,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACD1",
"gene_hgnc_id": 9639,
"hgvs_c": "n.465C>T",
"hgvs_p": null,
"transcript": "ENST00000471481.1",
"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": 566,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACD1",
"gene_hgnc_id": 9639,
"hgvs_c": "n.*68C>T",
"hgvs_p": null,
"transcript": "ENST00000498812.5",
"protein_id": "ENSP00000462868.1",
"transcript_support_level": 5,
"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": 459,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACD1",
"gene_hgnc_id": 9639,
"hgvs_c": "n.*68C>T",
"hgvs_p": null,
"transcript": "ENST00000498812.5",
"protein_id": "ENSP00000462868.1",
"transcript_support_level": 5,
"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": 459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HACD1",
"gene_hgnc_id": 9639,
"dbsnp": "rs1053926",
"frequency_reference_population": 0.25975344,
"hom_count_reference_population": 57144,
"allele_count_reference_population": 415579,
"gnomad_exomes_af": 0.260605,
"gnomad_genomes_af": 0.251639,
"gnomad_exomes_ac": 377349,
"gnomad_genomes_ac": 38230,
"gnomad_exomes_homalt": 52053,
"gnomad_genomes_homalt": 5091,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010225772857666016,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.051,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.799,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000361271.8",
"gene_symbol": "HACD1",
"hgnc_id": 9639,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.679C>T",
"hgvs_p": "p.His227Tyr"
}
],
"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
}