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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: 10-101611302-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101611302&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101611302,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022039.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"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.1693C>G",
"hgvs_p": "p.Gln565Glu",
"transcript": "NM_022039.4",
"protein_id": "NP_071322.2",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 567,
"cds_start": 1693,
"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": "Q",
"aa_alt": "E",
"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.1693C>G",
"hgvs_p": "p.Gln565Glu",
"transcript": "ENST00000331272.9",
"protein_id": "ENSP00000359149.3",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 567,
"cds_start": 1693,
"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": "Q",
"aa_alt": "E",
"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.1765C>G",
"hgvs_p": "p.Gln589Glu",
"transcript": "ENST00000945850.1",
"protein_id": "ENSP00000615909.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 591,
"cds_start": 1765,
"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": "Q",
"aa_alt": "E",
"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.1744C>G",
"hgvs_p": "p.Gln582Glu",
"transcript": "ENST00000945851.1",
"protein_id": "ENSP00000615910.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 584,
"cds_start": 1744,
"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": "Q",
"aa_alt": "E",
"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.1699C>G",
"hgvs_p": "p.Gln567Glu",
"transcript": "ENST00000945852.1",
"protein_id": "ENSP00000615911.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 569,
"cds_start": 1699,
"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": "Q",
"aa_alt": "E",
"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.1663C>G",
"hgvs_p": "p.Gln555Glu",
"transcript": "ENST00000945853.1",
"protein_id": "ENSP00000615912.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 557,
"cds_start": 1663,
"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": "Q",
"aa_alt": "E",
"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.1627C>G",
"hgvs_p": "p.Gln543Glu",
"transcript": "ENST00000919945.1",
"protein_id": "ENSP00000590004.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 545,
"cds_start": 1627,
"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": "Q",
"aa_alt": "E",
"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.1597C>G",
"hgvs_p": "p.Gln533Glu",
"transcript": "ENST00000919944.1",
"protein_id": "ENSP00000590003.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 535,
"cds_start": 1597,
"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": "Q",
"aa_alt": "E",
"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.1228C>G",
"hgvs_p": "p.Gln410Glu",
"transcript": "ENST00000664783.1",
"protein_id": "ENSP00000499522.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1228,
"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": "Q",
"aa_alt": "E",
"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.1183C>G",
"hgvs_p": "p.Gln395Glu",
"transcript": "ENST00000919946.1",
"protein_id": "ENSP00000590005.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 397,
"cds_start": 1183,
"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": "Q",
"aa_alt": "E",
"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.967C>G",
"hgvs_p": "p.Gln323Glu",
"transcript": "NM_001323541.2",
"protein_id": "NP_001310470.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 325,
"cds_start": 967,
"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.2547C>G",
"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.1663C>G",
"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": "rs2063780083",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09392213821411133,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.0894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.211,
"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.1693C>G",
"hgvs_p": "p.Gln565Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}