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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: 20-419671-C-CGACGAGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=419671&ref=C&alt=CGACGAGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 419671,
"ref": "C",
"alt": "CGACGAGG",
"effect": "frameshift_variant",
"transcript": "ENST00000356286.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.697_703dupGACGAGG",
"hgvs_p": "p.Glu235fs",
"transcript": "NM_031229.4",
"protein_id": "NP_112506.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 510,
"cds_start": 704,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "ENST00000356286.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.697_703dupGACGAGG",
"hgvs_p": "p.Glu235fs",
"transcript": "ENST00000356286.10",
"protein_id": "ENSP00000348632.6",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 510,
"cds_start": 704,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "NM_031229.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.571_577dupGACGAGG",
"hgvs_p": "p.Glu193fs",
"transcript": "ENST00000353660.7",
"protein_id": "ENSP00000254960.5",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 468,
"cds_start": 578,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.571_577dupGACGAGG",
"hgvs_p": null,
"transcript": "ENST00000382181.2",
"protein_id": "ENSP00000371616.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.697_703dupGACGAGG",
"hgvs_p": null,
"transcript": "ENST00000382214.7",
"protein_id": "ENSP00000371649.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.748_754dupGACGAGG",
"hgvs_p": "p.Glu252fs",
"transcript": "NM_001410770.1",
"protein_id": "NP_001397699.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 527,
"cds_start": 755,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.748_754dupGACGAGG",
"hgvs_p": "p.Glu252fs",
"transcript": "ENST00000697805.1",
"protein_id": "ENSP00000513446.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 527,
"cds_start": 755,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.571_577dupGACGAGG",
"hgvs_p": "p.Glu193fs",
"transcript": "NM_006462.6",
"protein_id": "NP_006453.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 468,
"cds_start": 578,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "DEE?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.348_354dupGACGAGG",
"hgvs_p": "p.Arg119fs",
"transcript": "NM_001323956.2",
"protein_id": "NP_001310885.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 340,
"cds_start": 355,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "DEE?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.348_354dupGACGAGG",
"hgvs_p": "p.Arg119fs",
"transcript": "NM_001323958.2",
"protein_id": "NP_001310887.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 340,
"cds_start": 355,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.871_877dupGACGAGG",
"hgvs_p": "p.Glu293fs",
"transcript": "XM_011529137.3",
"protein_id": "XP_011527439.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 568,
"cds_start": 878,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.820_826dupGACGAGG",
"hgvs_p": "p.Glu276fs",
"transcript": "XM_011529138.2",
"protein_id": "XP_011527440.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 551,
"cds_start": 827,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.871_877dupGACGAGG",
"hgvs_p": "p.Glu293fs",
"transcript": "XM_011529139.4",
"protein_id": "XP_011527441.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 502,
"cds_start": 878,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.871_877dupGACGAGG",
"hgvs_p": "p.Glu293fs",
"transcript": "XM_011529140.3",
"protein_id": "XP_011527442.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 362,
"cds_start": 878,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.871_877dupGACGAGG",
"hgvs_p": "p.Glu293fs",
"transcript": "XM_047439833.1",
"protein_id": "XP_047295789.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 330,
"cds_start": 878,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.697_703dupGACGAGG",
"hgvs_p": "p.Glu235fs",
"transcript": "XM_047439834.1",
"protein_id": "XP_047295790.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 304,
"cds_start": 704,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "GRG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.748_754dupGACGAGG",
"hgvs_p": "p.Glu252fs",
"transcript": "XM_047439835.1",
"protein_id": "XP_047295791.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 289,
"cds_start": 755,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.697_703dupGACGAGG",
"hgvs_p": null,
"transcript": "ENST00000415942.5",
"protein_id": "ENSP00000405288.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.697_703dupGACGAGG",
"hgvs_p": null,
"transcript": "ENST00000697804.1",
"protein_id": "ENSP00000513444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.1156_1162dupGACGAGG",
"hgvs_p": null,
"transcript": "NR_136659.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.*29_*30insGACGAGG",
"hgvs_p": null,
"transcript": "ENST00000414880.1",
"protein_id": "ENSP00000393841.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"dbsnp": "rs730880330",
"frequency_reference_population": 0.000007588837,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000769743,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"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": 5.029,
"phylop100way_prediction": "Uncertain_significance",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000356286.10",
"gene_symbol": "RBCK1",
"hgnc_id": 15864,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.697_703dupGACGAGG",
"hgvs_p": "p.Glu235fs"
}
],
"clinvar_disease": "Polyglucosan body myopathy 1 without immunodeficiency,Polyglucosan body myopathy type 1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Polyglucosan body myopathy type 1|Polyglucosan body myopathy 1 without immunodeficiency",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}