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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: 1-150966204-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150966204&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150966204,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022075.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "NM_022075.5",
"protein_id": "NP_071358.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 380,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": "ENST00000368954.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "ENST00000368954.10",
"protein_id": "ENSP00000357950.5",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 380,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": "NM_022075.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Arg210Trp",
"transcript": "ENST00000560793.6",
"protein_id": "ENSP00000453297.2",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 227,
"cds_start": 628,
"cds_end": null,
"cds_length": 684,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "NM_181746.4",
"protein_id": "NP_859530.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 380,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "ENST00000271688.10",
"protein_id": "ENSP00000271688.6",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 380,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Trp",
"transcript": "XM_011509451.3",
"protein_id": "XP_011507753.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 400,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp",
"transcript": "XM_011509452.4",
"protein_id": "XP_011507754.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 380,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "n.1139C>T",
"hgvs_p": null,
"transcript": "ENST00000345896.8",
"protein_id": null,
"transcript_support_level": 2,
"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": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "n.926C>T",
"hgvs_p": null,
"transcript": "ENST00000482825.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259357",
"gene_hgnc_id": 58295,
"hgvs_c": "n.590G>A",
"hgvs_p": null,
"transcript": "ENST00000561111.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 642,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.975+272C>T",
"hgvs_p": null,
"transcript": "ENST00000561294.5",
"protein_id": "ENSP00000454160.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259357",
"gene_hgnc_id": 58295,
"hgvs_c": "n.*241G>A",
"hgvs_p": null,
"transcript": "ENST00000560481.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"dbsnp": "rs138395828",
"frequency_reference_population": 0.000019912832,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000206203,
"gnomad_genomes_af": 0.0000131468,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17023074626922607,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.2215,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.217,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_022075.5",
"gene_symbol": "CERS2",
"hgnc_id": 14076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Trp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000561111.2",
"gene_symbol": "ENSG00000259357",
"hgnc_id": 58295,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.590G>A",
"hgvs_p": null
}
],
"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
}