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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: 9-101362734-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=101362734&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 101362734,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000259407.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Gln317Gln",
"transcript": "NM_001701.4",
"protein_id": "NP_001692.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 418,
"cds_start": 951,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "ENST00000259407.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Gln317Gln",
"transcript": "ENST00000259407.7",
"protein_id": "ENSP00000259407.2",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 418,
"cds_start": 951,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "NM_001701.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Gln317Gln",
"transcript": "ENST00000395051.4",
"protein_id": "ENSP00000378491.3",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 418,
"cds_start": 951,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Gln317Gln",
"transcript": "NM_001127610.2",
"protein_id": "NP_001121082.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 418,
"cds_start": 951,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Gln317Gln",
"transcript": "NM_001374715.1",
"protein_id": "NP_001361644.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 418,
"cds_start": 951,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Gln317Gln",
"transcript": "ENST00000674556.1",
"protein_id": "ENSP00000501610.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 418,
"cds_start": 951,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "n.762+189G>A",
"hgvs_p": null,
"transcript": "ENST00000674791.1",
"protein_id": "ENSP00000501644.1",
"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": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"hgvs_c": "n.804+147G>A",
"hgvs_p": null,
"transcript": "ENST00000674909.1",
"protein_id": "ENSP00000502812.1",
"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": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BAAT",
"gene_hgnc_id": 932,
"dbsnp": "rs61756326",
"frequency_reference_population": 0.0064359335,
"hom_count_reference_population": 48,
"allele_count_reference_population": 10389,
"gnomad_exomes_af": 0.00670304,
"gnomad_genomes_af": 0.00387281,
"gnomad_exomes_ac": 9799,
"gnomad_genomes_ac": 590,
"gnomad_exomes_homalt": 43,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.705,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": "ENST00000259407.7",
"gene_symbol": "BAAT",
"hgnc_id": 932,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Gln317Gln"
}
],
"clinvar_disease": " familial 1,Hypercholanemia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|Hypercholanemia, familial 1|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}