← Back to variant description
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: 15-100402838-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=100402838&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 100402838,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001290341.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "NM_001378789.1",
"protein_id": "NP_001365718.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000679737.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378789.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000679737.1",
"protein_id": "ENSP00000506641.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378789.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679737.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000284382.8",
"protein_id": "ENSP00000284382.4",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284382.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000394113.5",
"protein_id": "ENSP00000377672.3",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394113.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000538112.6",
"protein_id": "ENSP00000437640.2",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538112.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"transcript": "NM_001290341.2",
"protein_id": "NP_001277270.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 394,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290341.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "NM_001290342.2",
"protein_id": "NP_001277271.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290342.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "NM_001290343.2",
"protein_id": "NP_001277272.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290343.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "NM_178842.5",
"protein_id": "NP_849164.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178842.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"transcript": "XM_011521355.3",
"protein_id": "XP_011519657.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 394,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521355.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"transcript": "XM_011521357.3",
"protein_id": "XP_011519659.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 394,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521357.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys",
"transcript": "XM_017022002.2",
"protein_id": "XP_016877491.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 394,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022002.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "XM_017022004.2",
"protein_id": "XP_016877493.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 383,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022004.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "n.121G>A",
"hgvs_p": null,
"transcript": "ENST00000560944.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560944.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS3-AS1",
"gene_hgnc_id": 51431,
"hgvs_c": "n.51+2913C>T",
"hgvs_p": null,
"transcript": "ENST00000560643.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CERS3-AS1",
"gene_hgnc_id": 51431,
"hgvs_c": "n.211+2913C>T",
"hgvs_p": null,
"transcript": "ENST00000560718.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560718.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CERS3-AS1",
"gene_hgnc_id": 51431,
"hgvs_c": "n.211+2913C>T",
"hgvs_p": null,
"transcript": "NR_120374.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120374.1"
}
],
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"dbsnp": "rs145849861",
"frequency_reference_population": 0.000024849938,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000157821,
"gnomad_genomes_af": 0.000111612,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2094687819480896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.1861,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.409,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PP5,BP4,BS1_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001290341.2",
"gene_symbol": "CERS3",
"hgnc_id": 23752,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Glu354Lys"
},
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000560643.1",
"gene_symbol": "CERS3-AS1",
"hgnc_id": 51431,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.51+2913C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}