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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: 9-107318823-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=107318823&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 107318823,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002874.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Ala209Thr",
"transcript": "NM_002874.5",
"protein_id": "NP_002865.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 409,
"cds_start": 625,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358015.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002874.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Ala209Thr",
"transcript": "ENST00000358015.8",
"protein_id": "ENSP00000350708.3",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 409,
"cds_start": 625,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002874.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358015.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Ala137Thr",
"transcript": "ENST00000416373.6",
"protein_id": "ENSP00000405623.2",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 337,
"cds_start": 409,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416373.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Ala188Thr",
"transcript": "NM_001244713.1",
"protein_id": "NP_001231642.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 388,
"cds_start": 562,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244713.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Ala209Thr",
"transcript": "ENST00000866019.1",
"protein_id": "ENSP00000536078.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 381,
"cds_start": 625,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866019.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Ala155Thr",
"transcript": "ENST00000866018.1",
"protein_id": "ENSP00000536077.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 355,
"cds_start": 463,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866018.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Ala137Thr",
"transcript": "NM_001244724.2",
"protein_id": "NP_001231653.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 337,
"cds_start": 409,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244724.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Ala78Thr",
"transcript": "ENST00000457811.1",
"protein_id": "ENSP00000396975.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 113,
"cds_start": 232,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457811.1"
}
],
"gene_symbol": "RAD23B",
"gene_hgnc_id": 9813,
"dbsnp": "rs755747068",
"frequency_reference_population": 6.84325e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84325e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4036563038825989,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.1537,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.524,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002874.5",
"gene_symbol": "RAD23B",
"hgnc_id": 9813,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Ala209Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}