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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: 15-100501807-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=100501807&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 100501807,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001290341.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "NM_001378789.1",
"protein_id": "NP_001365718.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "ENST00000679737.1",
"protein_id": "ENSP00000506641.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "ENST00000284382.8",
"protein_id": "ENSP00000284382.4",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "ENST00000394113.5",
"protein_id": "ENSP00000377672.3",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "ENST00000538112.6",
"protein_id": "ENSP00000437640.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "n.587T>C",
"hgvs_p": null,
"transcript": "ENST00000559023.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000559023.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Trp26Arg",
"transcript": "NM_001290341.2",
"protein_id": "NP_001277270.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 394,
"cds_start": 76,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "NM_001290342.2",
"protein_id": "NP_001277271.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "NM_001290343.2",
"protein_id": "NP_001277272.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "NM_178842.5",
"protein_id": "NP_849164.2",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "ENST00000558884.6",
"protein_id": "ENSP00000453816.2",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 161,
"cds_start": 43,
"cds_end": null,
"cds_length": 488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558884.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "ENST00000559639.1",
"protein_id": "ENSP00000453598.3",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 14,
"cds_start": 43,
"cds_end": null,
"cds_length": 46,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559639.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Trp26Arg",
"transcript": "XM_011521355.3",
"protein_id": "XP_011519657.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 394,
"cds_start": 76,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Trp26Arg",
"transcript": "XM_011521357.3",
"protein_id": "XP_011519659.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 394,
"cds_start": 76,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Trp26Arg",
"transcript": "XM_017022002.2",
"protein_id": "XP_016877491.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 394,
"cds_start": 76,
"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": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "c.43T>C",
"hgvs_p": "p.Trp15Arg",
"transcript": "XM_017022004.2",
"protein_id": "XP_016877493.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 383,
"cds_start": 43,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"hgvs_c": "n.93+43096T>C",
"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"
}
],
"gene_symbol": "CERS3",
"gene_hgnc_id": 23752,
"dbsnp": "rs762679102",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9859898090362549,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.742,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.303,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PS1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001290341.2",
"gene_symbol": "CERS3",
"hgnc_id": 23752,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Trp26Arg"
}
],
"clinvar_disease": "Autosomal recessive congenital ichthyosis 9",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal recessive congenital ichthyosis 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}