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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: 13-31247855-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=31247855&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 31247855,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000343307.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.348T>A",
"hgvs_p": "p.His116Gln",
"transcript": "NM_194318.4",
"protein_id": "NP_919299.3",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 498,
"cds_start": 348,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": "ENST00000343307.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.348T>A",
"hgvs_p": "p.His116Gln",
"transcript": "ENST00000343307.5",
"protein_id": "ENSP00000343002.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 498,
"cds_start": 348,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": "NM_194318.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.291T>A",
"hgvs_p": "p.His97Gln",
"transcript": "XM_006719768.4",
"protein_id": "XP_006719831.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 479,
"cds_start": 291,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.348T>A",
"hgvs_p": "p.His116Gln",
"transcript": "XM_011534936.2",
"protein_id": "XP_011533238.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 458,
"cds_start": 348,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.201T>A",
"hgvs_p": "p.His67Gln",
"transcript": "XM_011534938.3",
"protein_id": "XP_011533240.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 449,
"cds_start": 201,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.201T>A",
"hgvs_p": "p.His67Gln",
"transcript": "XM_047430110.1",
"protein_id": "XP_047286066.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 449,
"cds_start": 201,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.348T>A",
"hgvs_p": "p.His116Gln",
"transcript": "XM_047430111.1",
"protein_id": "XP_047286067.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 298,
"cds_start": 348,
"cds_end": null,
"cds_length": 897,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"dbsnp": "rs4943266",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08068263530731201,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.093,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.312,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000207116063954882,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000343307.5",
"gene_symbol": "B3GLCT",
"hgnc_id": 20207,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.348T>A",
"hgvs_p": "p.His116Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}