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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: 15-84643474-C-CGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=84643474&ref=C&alt=CGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "WDR73",
"hgnc_id": 25928,
"hgvs_c": "c.1131_1132dupCC",
"hgvs_p": "p.Arg378fs",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_032856.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000291159",
"hgnc_id": 58684,
"hgvs_c": "n.4987_4988dupGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000348993.10",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 378,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5331,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1137,
"cds_start": 1132,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_032856.5",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "c.1131_1132dupCC",
"hgvs_p": "p.Arg378fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000434634.7",
"protein_coding": true,
"protein_id": "NP_116245.2",
"strand": false,
"transcript": "NM_032856.5",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 378,
"aa_ref": "R",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5331,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1137,
"cds_start": 1132,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000434634.7",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "c.1131_1132dupCC",
"hgvs_p": "p.Arg378fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032856.5",
"protein_coding": true,
"protein_id": "ENSP00000387982.3",
"strand": false,
"transcript": "ENST00000434634.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 8986,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000348993.10",
"gene_hgnc_id": 58684,
"gene_symbol": "ENSG00000291159",
"hgvs_c": "n.4987_4988dupGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000348993.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000398528.7",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1207_1208dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000398528.7",
"transcript_support_level": 1
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1129,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948303.1",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "c.1128_1129dupCC",
"hgvs_p": "p.Arg377fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618362.1",
"strand": false,
"transcript": "ENST00000948303.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1062,
"cds_start": 1057,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948302.1",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "c.1056_1057dupCC",
"hgvs_p": "p.Arg353fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618361.1",
"strand": false,
"transcript": "ENST00000948302.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1166,
"cdna_start": 772,
"cds_end": null,
"cds_length": 771,
"cds_start": 766,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000873649.1",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "c.765_766dupCC",
"hgvs_p": "p.Arg256fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543708.1",
"strand": false,
"transcript": "ENST00000873649.1",
"transcript_support_level": null
},
{
"aa_alt": "P?",
"aa_end": null,
"aa_length": 201,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1036,
"cdna_start": 612,
"cds_end": null,
"cds_length": 606,
"cds_start": 601,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915865.1",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "c.600_601dupCC",
"hgvs_p": "p.Arg201fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585924.1",
"strand": false,
"transcript": "ENST00000915865.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000558608.1",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1823_1824dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000558608.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000559015.5",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1719_1720dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000559015.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000559126.5",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1637_1638dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000559126.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000559994.5",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1355_1356dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000559994.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_130944.2",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1674_1675dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_130944.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_130945.2",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1253_1254dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_130945.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5338,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_130946.2",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1147_1148dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_130946.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_130947.2",
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"hgvs_c": "n.1051_1052dupCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_130947.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000762213.1",
"gene_hgnc_id": 58684,
"gene_symbol": "ENSG00000291159",
"hgvs_c": "n.982+5002_982+5003dupGG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000762213.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000762214.1",
"gene_hgnc_id": 58684,
"gene_symbol": "ENSG00000291159",
"hgvs_c": "n.319-3166_319-3165dupGG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000762214.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs747109506",
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25928,
"gene_symbol": "WDR73",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.552,
"pos": 84643474,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_032856.5"
}
]
}