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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: 10-101611340-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101611340&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101611340,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022039.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"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.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"transcript": "NM_022039.4",
"protein_id": "NP_071322.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 567,
"cds_start": 1655,
"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": "Y",
"aa_alt": "F",
"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.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"transcript": "ENST00000331272.9",
"protein_id": "ENSP00000359149.3",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 567,
"cds_start": 1655,
"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": "Y",
"aa_alt": "F",
"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.1727A>T",
"hgvs_p": "p.Tyr576Phe",
"transcript": "ENST00000945850.1",
"protein_id": "ENSP00000615909.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 591,
"cds_start": 1727,
"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": "Y",
"aa_alt": "F",
"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.1706A>T",
"hgvs_p": "p.Tyr569Phe",
"transcript": "ENST00000945851.1",
"protein_id": "ENSP00000615910.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 584,
"cds_start": 1706,
"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": "Y",
"aa_alt": "F",
"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.1661A>T",
"hgvs_p": "p.Tyr554Phe",
"transcript": "ENST00000945852.1",
"protein_id": "ENSP00000615911.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 569,
"cds_start": 1661,
"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": "Y",
"aa_alt": "F",
"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.1625A>T",
"hgvs_p": "p.Tyr542Phe",
"transcript": "ENST00000945853.1",
"protein_id": "ENSP00000615912.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 557,
"cds_start": 1625,
"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": "Y",
"aa_alt": "F",
"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.1589A>T",
"hgvs_p": "p.Tyr530Phe",
"transcript": "ENST00000919945.1",
"protein_id": "ENSP00000590004.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 545,
"cds_start": 1589,
"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": "Y",
"aa_alt": "F",
"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.1559A>T",
"hgvs_p": "p.Tyr520Phe",
"transcript": "ENST00000919944.1",
"protein_id": "ENSP00000590003.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 535,
"cds_start": 1559,
"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": "Y",
"aa_alt": "F",
"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.1190A>T",
"hgvs_p": "p.Tyr397Phe",
"transcript": "ENST00000664783.1",
"protein_id": "ENSP00000499522.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 412,
"cds_start": 1190,
"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": "Y",
"aa_alt": "F",
"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.1145A>T",
"hgvs_p": "p.Tyr382Phe",
"transcript": "ENST00000919946.1",
"protein_id": "ENSP00000590005.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 397,
"cds_start": 1145,
"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": "Y",
"aa_alt": "F",
"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.929A>T",
"hgvs_p": "p.Tyr310Phe",
"transcript": "NM_001323541.2",
"protein_id": "NP_001310470.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 325,
"cds_start": 929,
"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.2509A>T",
"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.1625A>T",
"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": "rs922376579",
"frequency_reference_population": 0.0000030982505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205224,
"gnomad_genomes_af": 0.0000131582,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47279638051986694,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.0835,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.372,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022039.4",
"gene_symbol": "FBXW4",
"hgnc_id": 10847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.Tyr552Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}