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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: 9-4701906-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=4701906&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 4701906,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_017913.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC37L1",
"gene_hgnc_id": 17179,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Glu264*",
"transcript": "NM_017913.4",
"protein_id": "NP_060383.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 337,
"cds_start": 790,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381854.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017913.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC37L1",
"gene_hgnc_id": 17179,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Glu264*",
"transcript": "ENST00000381854.4",
"protein_id": "ENSP00000371278.3",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 337,
"cds_start": 790,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017913.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381854.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC37L1",
"gene_hgnc_id": 17179,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Glu244*",
"transcript": "ENST00000906225.1",
"protein_id": "ENSP00000576284.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 317,
"cds_start": 730,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906225.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC37L1",
"gene_hgnc_id": 17179,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Glu264*",
"transcript": "ENST00000381858.5",
"protein_id": "ENSP00000371282.1",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 308,
"cds_start": 790,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381858.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC37L1",
"gene_hgnc_id": 17179,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Glu264*",
"transcript": "ENST00000906224.1",
"protein_id": "ENSP00000576283.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 302,
"cds_start": 790,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906224.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC37L1",
"gene_hgnc_id": 17179,
"hgvs_c": "c.580G>T",
"hgvs_p": "p.Glu194*",
"transcript": "ENST00000906223.1",
"protein_id": "ENSP00000576282.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 267,
"cds_start": 580,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CDC37L1",
"gene_hgnc_id": 17179,
"hgvs_c": "c.747+4027G>T",
"hgvs_p": null,
"transcript": "ENST00000906222.1",
"protein_id": "ENSP00000576281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906222.1"
}
],
"gene_symbol": "CDC37L1",
"gene_hgnc_id": 17179,
"dbsnp": "rs1841401387",
"frequency_reference_population": 6.885004e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.885e-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": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.856,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.15,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017913.4",
"gene_symbol": "CDC37L1",
"hgnc_id": 17179,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Glu264*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}