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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: 10-101611330-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101611330&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "FBXW4",
"hgnc_id": 10847,
"hgvs_c": "c.1663_1664delCT",
"hgvs_p": "p.Leu555fs",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_022039.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "See cases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": "L",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1663,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_022039.4",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1663_1664delCT",
"hgvs_p": "p.Leu555fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331272.9",
"protein_coding": true,
"protein_id": "NP_071322.2",
"strand": false,
"transcript": "NM_022039.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 567,
"aa_ref": "L",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1663,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000331272.9",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1663_1664delCT",
"hgvs_p": "p.Leu555fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022039.4",
"protein_coding": true,
"protein_id": "ENSP00000359149.3",
"strand": false,
"transcript": "ENST00000331272.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 591,
"aa_ref": "L",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1735,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945850.1",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1735_1736delCT",
"hgvs_p": "p.Leu579fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615909.1",
"strand": false,
"transcript": "ENST00000945850.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": "L",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1714,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000945851.1",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1714_1715delCT",
"hgvs_p": "p.Leu572fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615910.1",
"strand": false,
"transcript": "ENST00000945851.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 569,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1669,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000945852.1",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1669_1670delCT",
"hgvs_p": "p.Leu557fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615911.1",
"strand": false,
"transcript": "ENST00000945852.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": "L",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1633,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000945853.1",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1633_1634delCT",
"hgvs_p": "p.Leu545fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615912.1",
"strand": false,
"transcript": "ENST00000945853.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": "L",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1597,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919945.1",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1597_1598delCT",
"hgvs_p": "p.Leu533fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590004.1",
"strand": false,
"transcript": "ENST00000919945.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1567,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919944.1",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1567_1568delCT",
"hgvs_p": "p.Leu523fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590003.1",
"strand": false,
"transcript": "ENST00000919944.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 412,
"aa_ref": "L",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1198,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000664783.1",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1198_1199delCT",
"hgvs_p": "p.Leu400fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499522.1",
"strand": false,
"transcript": "ENST00000664783.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 397,
"aa_ref": "L",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1194,
"cds_start": 1153,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919946.1",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.1153_1154delCT",
"hgvs_p": "p.Leu385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590005.1",
"strand": false,
"transcript": "ENST00000919946.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": "L",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1660,
"cdna_start": 995,
"cds_end": null,
"cds_length": 978,
"cds_start": 937,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323541.2",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "c.937_938delCT",
"hgvs_p": "p.Leu313fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310470.1",
"strand": false,
"transcript": "NM_001323541.2",
"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": 3185,
"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": "ENST00000470093.5",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "n.2517_2518delCT",
"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": "ENST00000470093.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"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_136613.2",
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"hgvs_c": "n.1633_1634delCT",
"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_136613.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1393527867",
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 10847,
"gene_symbol": "FBXW4",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84078e-7,
"gnomad_exomes_homalt": 0,
"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": "Uncertain significance",
"phenotype_combined": "See cases",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.591,
"pos": 101611330,
"ref": "CAG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_022039.4"
}
]
}