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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: 16-66940249-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66940249&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 66940249,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003869.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "NM_001365405.1",
"protein_id": "NP_001352334.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 559,
"cds_start": 451,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317091.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365405.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000317091.10",
"protein_id": "ENSP00000317842.5",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 559,
"cds_start": 451,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365405.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317091.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000417689.6",
"protein_id": "ENSP00000394452.2",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 543,
"cds_start": 451,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417689.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Leu249Phe",
"transcript": "ENST00000971765.1",
"protein_id": "ENSP00000641824.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 657,
"cds_start": 745,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971765.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "NM_003869.6",
"protein_id": "NP_003860.3",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 559,
"cds_start": 451,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003869.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000971763.1",
"protein_id": "ENSP00000641822.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 556,
"cds_start": 451,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971763.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "NM_198061.3",
"protein_id": "NP_932327.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 543,
"cds_start": 451,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198061.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000885062.1",
"protein_id": "ENSP00000555121.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 537,
"cds_start": 451,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885062.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000885060.1",
"protein_id": "ENSP00000555119.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 532,
"cds_start": 451,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885060.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000971761.1",
"protein_id": "ENSP00000641820.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 526,
"cds_start": 451,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971761.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Leu115Phe",
"transcript": "ENST00000971762.1",
"protein_id": "ENSP00000641821.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 523,
"cds_start": 343,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971762.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000971760.1",
"protein_id": "ENSP00000641819.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 516,
"cds_start": 451,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971760.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000971764.1",
"protein_id": "ENSP00000641823.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 513,
"cds_start": 451,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971764.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe",
"transcript": "ENST00000885061.1",
"protein_id": "ENSP00000555120.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 485,
"cds_start": 451,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885061.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"transcript": "NM_001365406.1",
"protein_id": "NP_001352335.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 466,
"cds_start": 172,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365406.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"transcript": "NM_001365407.1",
"protein_id": "NP_001352336.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 466,
"cds_start": 172,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365407.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"transcript": "NM_001365408.1",
"protein_id": "NP_001352337.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 450,
"cds_start": 172,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365408.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Phe",
"transcript": "ENST00000561697.5",
"protein_id": "ENSP00000463641.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 124,
"cds_start": 172,
"cds_end": null,
"cds_length": 376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561697.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "n.*539C>T",
"hgvs_p": null,
"transcript": "ENST00000568470.6",
"protein_id": "ENSP00000456167.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000568470.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"hgvs_c": "n.*539C>T",
"hgvs_p": null,
"transcript": "ENST00000568470.6",
"protein_id": "ENSP00000456167.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000568470.6"
}
],
"gene_symbol": "CES2",
"gene_hgnc_id": 1864,
"dbsnp": "rs948763121",
"frequency_reference_population": 0.000016194479,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000154721,
"gnomad_genomes_af": 0.0000246261,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08418545126914978,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.1884,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.19,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_003869.6",
"gene_symbol": "CES2",
"hgnc_id": 1864,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Leu151Phe"
}
],
"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
}