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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: 22-39087097-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39087097&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39087097,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000407997.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3G",
"gene_hgnc_id": 17357,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Leu371Leu",
"transcript": "NM_021822.4",
"protein_id": "NP_068594.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 384,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": "ENST00000407997.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3G",
"gene_hgnc_id": 17357,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Leu371Leu",
"transcript": "ENST00000407997.4",
"protein_id": "ENSP00000385057.3",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 384,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": "NM_021822.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3G",
"gene_hgnc_id": 17357,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Leu360Leu",
"transcript": "NM_001349436.1",
"protein_id": "NP_001336365.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 373,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3G",
"gene_hgnc_id": 17357,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Leu304Leu",
"transcript": "NM_001349437.2",
"protein_id": "NP_001336366.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 317,
"cds_start": 910,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APOBEC3G",
"gene_hgnc_id": 17357,
"dbsnp": "rs11545130",
"frequency_reference_population": 0.0016735215,
"hom_count_reference_population": 31,
"allele_count_reference_population": 2701,
"gnomad_exomes_af": 0.00100296,
"gnomad_genomes_af": 0.00810931,
"gnomad_exomes_ac": 1466,
"gnomad_genomes_ac": 1235,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.267,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000407997.4",
"gene_symbol": "APOBEC3G",
"hgnc_id": 17357,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Leu371Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}