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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: 14-77616452-CCGGCGG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77616452&ref=CCGGCGG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77616452,
"ref": "CCGGCGG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_004863.4",
"consequences": [
{
"aa_ref": "AAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC2",
"gene_hgnc_id": 11278,
"hgvs_c": "c.122_127delCCGCCG",
"hgvs_p": "p.Ala41_Ala42del",
"transcript": "NM_004863.4",
"protein_id": "NP_004854.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 562,
"cds_start": 122,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216484.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004863.4"
},
{
"aa_ref": "AAG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC2",
"gene_hgnc_id": 11278,
"hgvs_c": "c.122_127delCCGCCG",
"hgvs_p": "p.Ala41_Ala42del",
"transcript": "ENST00000216484.7",
"protein_id": "ENSP00000216484.2",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 562,
"cds_start": 122,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004863.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216484.7"
},
{
"aa_ref": "AAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC2",
"gene_hgnc_id": 11278,
"hgvs_c": "c.122_127delCCGCCG",
"hgvs_p": "p.Ala41_Ala42del",
"transcript": "ENST00000950640.1",
"protein_id": "ENSP00000620699.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 594,
"cds_start": 122,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950640.1"
},
{
"aa_ref": "AAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC2",
"gene_hgnc_id": 11278,
"hgvs_c": "c.122_127delCCGCCG",
"hgvs_p": "p.Ala41_Ala42del",
"transcript": "ENST00000950639.1",
"protein_id": "ENSP00000620698.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 580,
"cds_start": 122,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950639.1"
},
{
"aa_ref": "AAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC2",
"gene_hgnc_id": 11278,
"hgvs_c": "c.122_127delCCGCCG",
"hgvs_p": "p.Ala41_Ala42del",
"transcript": "ENST00000921639.1",
"protein_id": "ENSP00000591699.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 573,
"cds_start": 122,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921639.1"
},
{
"aa_ref": "AAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC2",
"gene_hgnc_id": 11278,
"hgvs_c": "c.122_127delCCGCCG",
"hgvs_p": "p.Ala41_Ala42del",
"transcript": "ENST00000865813.1",
"protein_id": "ENSP00000535872.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 497,
"cds_start": 122,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865813.1"
},
{
"aa_ref": "AAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTLC2",
"gene_hgnc_id": 11278,
"hgvs_c": "c.122_127delCCGCCG",
"hgvs_p": "p.Ala41_Ala42del",
"transcript": "XM_011537384.3",
"protein_id": "XP_011535686.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 470,
"cds_start": 122,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537384.3"
}
],
"gene_symbol": "SPTLC2",
"gene_hgnc_id": 11278,
"dbsnp": "rs1555379635",
"frequency_reference_population": 0.000004042647,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000300285,
"gnomad_genomes_af": 0.0000131487,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.277,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "NM_004863.4",
"gene_symbol": "SPTLC2",
"hgnc_id": 11278,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.122_127delCCGCCG",
"hgvs_p": "p.Ala41_Ala42del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}