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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: 10-101611314-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101611314&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101611314,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022039.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Val561Leu",
"transcript": "NM_022039.4",
"protein_id": "NP_071322.2",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 567,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331272.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022039.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Val561Leu",
"transcript": "ENST00000331272.9",
"protein_id": "ENSP00000359149.3",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 567,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022039.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331272.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1753G>C",
"hgvs_p": "p.Val585Leu",
"transcript": "ENST00000945850.1",
"protein_id": "ENSP00000615909.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 591,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945850.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1732G>C",
"hgvs_p": "p.Val578Leu",
"transcript": "ENST00000945851.1",
"protein_id": "ENSP00000615910.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 584,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945851.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1687G>C",
"hgvs_p": "p.Val563Leu",
"transcript": "ENST00000945852.1",
"protein_id": "ENSP00000615911.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 569,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945852.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1651G>C",
"hgvs_p": "p.Val551Leu",
"transcript": "ENST00000945853.1",
"protein_id": "ENSP00000615912.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 557,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945853.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1615G>C",
"hgvs_p": "p.Val539Leu",
"transcript": "ENST00000919945.1",
"protein_id": "ENSP00000590004.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 545,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919945.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1585G>C",
"hgvs_p": "p.Val529Leu",
"transcript": "ENST00000919944.1",
"protein_id": "ENSP00000590003.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 535,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919944.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1216G>C",
"hgvs_p": "p.Val406Leu",
"transcript": "ENST00000664783.1",
"protein_id": "ENSP00000499522.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 412,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664783.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.1171G>C",
"hgvs_p": "p.Val391Leu",
"transcript": "ENST00000919946.1",
"protein_id": "ENSP00000590005.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 397,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919946.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "c.955G>C",
"hgvs_p": "p.Val319Leu",
"transcript": "NM_001323541.2",
"protein_id": "NP_001310470.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 325,
"cds_start": 955,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323541.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "n.2535G>C",
"hgvs_p": null,
"transcript": "ENST00000470093.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470093.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"hgvs_c": "n.1651G>C",
"hgvs_p": null,
"transcript": "NR_136613.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136613.2"
}
],
"gene_symbol": "FBXW4",
"gene_hgnc_id": 10847,
"dbsnp": "rs750201843",
"frequency_reference_population": 0.0000065741897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657419,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14349129796028137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.162,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.601,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022039.4",
"gene_symbol": "FBXW4",
"hgnc_id": 10847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Val561Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}