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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: 17-76287588-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76287588&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76287588,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000680821.2",
"consequences": [
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3896+212T>C",
"hgvs_p": null,
"transcript": "NM_001388453.1",
"protein_id": "NP_001375382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": "ENST00000680821.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3896+212T>C",
"hgvs_p": null,
"transcript": "ENST00000680821.2",
"protein_id": "ENSP00000504874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": "NM_001388453.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3896+212T>C",
"hgvs_p": null,
"transcript": "ENST00000636395.1",
"protein_id": "ENSP00000490761.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1829,
"cds_start": -4,
"cds_end": null,
"cds_length": 5490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3398+212T>C",
"hgvs_p": null,
"transcript": "ENST00000262765.10",
"protein_id": "ENSP00000262765.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1663,
"cds_start": -4,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "n.*162+212T>C",
"hgvs_p": null,
"transcript": "ENST00000524722.1",
"protein_id": "ENSP00000432679.2",
"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": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3896+212T>C",
"hgvs_p": null,
"transcript": "NM_032134.3",
"protein_id": "NP_115510.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1829,
"cds_start": -4,
"cds_end": null,
"cds_length": 5490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.422+212T>C",
"hgvs_p": null,
"transcript": "ENST00000447564.2",
"protein_id": "ENSP00000394461.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "n.1265+212T>C",
"hgvs_p": null,
"transcript": "NR_130649.2",
"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": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3896+212T>C",
"hgvs_p": null,
"transcript": "XM_047436910.1",
"protein_id": "XP_047292866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1880,
"cds_start": -4,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3836+212T>C",
"hgvs_p": null,
"transcript": "XM_017025207.3",
"protein_id": "XP_016880696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1867,
"cds_start": -4,
"cds_end": null,
"cds_length": 5604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3551+212T>C",
"hgvs_p": null,
"transcript": "XM_011525344.3",
"protein_id": "XP_011523646.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1772,
"cds_start": -4,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3251+212T>C",
"hgvs_p": null,
"transcript": "XM_047436911.1",
"protein_id": "XP_047292867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1672,
"cds_start": -4,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.3810+212T>C",
"hgvs_p": null,
"transcript": "XM_047436912.1",
"protein_id": "XP_047292868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": -4,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.158+212T>C",
"hgvs_p": null,
"transcript": "XM_006722136.4",
"protein_id": "XP_006722199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": -4,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.158+212T>C",
"hgvs_p": null,
"transcript": "XM_047436913.1",
"protein_id": "XP_047292869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"hgvs_c": "c.158+212T>C",
"hgvs_p": null,
"transcript": "XM_047436914.1",
"protein_id": "XP_047292870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "QRICH2",
"gene_hgnc_id": 25326,
"dbsnp": "rs164009",
"frequency_reference_population": 0.52465594,
"hom_count_reference_population": 23067,
"allele_count_reference_population": 79669,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.524656,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 79669,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 23067,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.701,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000680821.2",
"gene_symbol": "QRICH2",
"hgnc_id": 25326,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3896+212T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}