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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: 8-129751886-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=129751886&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 129751886,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_031415.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Glu298Gln",
"transcript": "NM_031415.3",
"protein_id": "NP_113603.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 508,
"cds_start": 892,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000276708.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031415.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Glu298Gln",
"transcript": "ENST00000276708.9",
"protein_id": "ENSP00000276708.4",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 508,
"cds_start": 892,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031415.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276708.9"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "n.237G>C",
"hgvs_p": null,
"transcript": "ENST00000522273.5",
"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": "ENST00000522273.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Glu298Gln",
"transcript": "XM_011517158.3",
"protein_id": "XP_011515460.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 499,
"cds_start": 892,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517158.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Glu298Gln",
"transcript": "XM_011517161.3",
"protein_id": "XP_011515463.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 470,
"cds_start": 892,
"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_011517161.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Glu298Gln",
"transcript": "XM_011517162.3",
"protein_id": "XP_011515464.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 442,
"cds_start": 892,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517162.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Glu212Gln",
"transcript": "XM_011517163.3",
"protein_id": "XP_011515465.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 422,
"cds_start": 634,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517163.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Glu149Gln",
"transcript": "XM_017013645.2",
"protein_id": "XP_016869134.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 359,
"cds_start": 445,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013645.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Glu61Gln",
"transcript": "XM_011517165.1",
"protein_id": "XP_011515467.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 271,
"cds_start": 181,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517165.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "XM_011517166.4",
"protein_id": "XP_011515468.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 262,
"cds_start": 154,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517166.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "c.886+220G>C",
"hgvs_p": null,
"transcript": "XM_011517159.3",
"protein_id": "XP_011515461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": null,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517159.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "n.108G>C",
"hgvs_p": null,
"transcript": "ENST00000521365.1",
"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": "retained_intron",
"feature": "ENST00000521365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "n.1510G>C",
"hgvs_p": null,
"transcript": "XR_928339.3",
"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": "XR_928339.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "n.1510G>C",
"hgvs_p": null,
"transcript": "XR_928340.3",
"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": "XR_928340.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"hgvs_c": "n.1510G>C",
"hgvs_p": null,
"transcript": "XR_928341.3",
"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": "XR_928341.3"
}
],
"gene_symbol": "GSDMC",
"gene_hgnc_id": 7151,
"dbsnp": "rs770331372",
"frequency_reference_population": 6.900635e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90063e-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": 0.04732567071914673,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0955,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.768,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_031415.3",
"gene_symbol": "GSDMC",
"hgnc_id": 7151,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Glu298Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}