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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: 9-34241319-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34241319&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34241319,
"ref": "C",
"alt": "CG",
"effect": "frameshift_variant",
"transcript": "ENST00000297661.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "NM_016525.5",
"protein_id": "NP_057609.2",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 502,
"cds_start": 296,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": "ENST00000297661.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "ENST00000297661.9",
"protein_id": "ENSP00000297661.4",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 502,
"cds_start": 296,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": "NM_016525.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "ENST00000359544.2",
"protein_id": "ENSP00000352541.2",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 502,
"cds_start": 296,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.487dupG",
"hgvs_p": "p.Asp163fs",
"transcript": "NM_001171201.1",
"protein_id": "NP_001164672.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 566,
"cds_start": 488,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.487dupG",
"hgvs_p": "p.Asp163fs",
"transcript": "ENST00000625521.2",
"protein_id": "ENSP00000486574.1",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 566,
"cds_start": 488,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.403dupG",
"hgvs_p": "p.Asp135fs",
"transcript": "NM_001171202.1",
"protein_id": "NP_001164673.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 538,
"cds_start": 404,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.373dupG",
"hgvs_p": "p.Asp125fs",
"transcript": "ENST00000626262.2",
"protein_id": "ENSP00000487222.1",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 528,
"cds_start": 374,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "NM_001171203.3",
"protein_id": "NP_001164674.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 502,
"cds_start": 296,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "NM_001171204.3",
"protein_id": "NP_001164675.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 502,
"cds_start": 296,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "ENST00000379186.8",
"protein_id": "ENSP00000368484.3",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 441,
"cds_start": 296,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.316dupG",
"hgvs_p": "p.Asp106fs",
"transcript": "XM_011517898.2",
"protein_id": "XP_011516200.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 509,
"cds_start": 317,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "XM_006716779.5",
"protein_id": "XP_006716842.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 502,
"cds_start": 296,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "XM_047423457.1",
"protein_id": "XP_047279413.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 502,
"cds_start": 296,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs",
"transcript": "XM_047423458.1",
"protein_id": "XP_047279414.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 502,
"cds_start": 296,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "c.253dupG",
"hgvs_p": "p.Asp85fs",
"transcript": "XM_017014802.2",
"protein_id": "XP_016870291.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 488,
"cds_start": 254,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 2500,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"hgvs_c": "n.616dupG",
"hgvs_p": null,
"transcript": "NR_033243.3",
"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": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UBAP1",
"gene_hgnc_id": 12461,
"dbsnp": "rs1563920000",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.901,
"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": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000297661.9",
"gene_symbol": "UBAP1",
"hgnc_id": 12461,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.295dupG",
"hgvs_p": "p.Asp99fs"
}
],
"clinvar_disease": " autosomal dominant,Spastic paraplegia 80",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spastic paraplegia 80, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}