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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: 10-27114561-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27114561&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "YME1L1",
"hgnc_id": 12843,
"hgvs_c": "c.2138C>T",
"hgvs_p": "p.Thr713Ile",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_139312.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.8061,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8507702946662903,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 716,
"aa_ref": "T",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_014263.4",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1967C>T",
"hgvs_p": "p.Thr656Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376016.8",
"protein_coding": true,
"protein_id": "NP_055078.1",
"strand": false,
"transcript": "NM_014263.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 716,
"aa_ref": "T",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000376016.8",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1967C>T",
"hgvs_p": "p.Thr656Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014263.4",
"protein_coding": true,
"protein_id": "ENSP00000365184.3",
"strand": false,
"transcript": "ENST00000376016.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 773,
"aa_ref": "T",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2322,
"cds_start": 2138,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000326799.7",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.2138C>T",
"hgvs_p": "p.Thr713Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318480.3",
"strand": false,
"transcript": "ENST00000326799.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 798,
"aa_ref": "T",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 2397,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000969517.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.2213C>T",
"hgvs_p": "p.Thr738Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639576.1",
"strand": false,
"transcript": "ENST00000969517.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 773,
"aa_ref": "T",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4362,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2322,
"cds_start": 2138,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_139312.3",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.2138C>T",
"hgvs_p": "p.Thr713Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_647473.1",
"strand": false,
"transcript": "NM_139312.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 742,
"aa_ref": "T",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 2204,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000969518.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.2045C>T",
"hgvs_p": "p.Thr682Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639577.1",
"strand": false,
"transcript": "ENST00000969518.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 740,
"aa_ref": "T",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2223,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000891817.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.2039C>T",
"hgvs_p": "p.Thr680Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561876.1",
"strand": false,
"transcript": "ENST00000891817.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 732,
"aa_ref": "T",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 2179,
"cds_end": null,
"cds_length": 2199,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000891815.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.2015C>T",
"hgvs_p": "p.Thr672Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561874.1",
"strand": false,
"transcript": "ENST00000891815.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 716,
"aa_ref": "T",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 2323,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1967,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000969516.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1967C>T",
"hgvs_p": "p.Thr656Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639575.1",
"strand": false,
"transcript": "ENST00000969516.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 713,
"aa_ref": "T",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1958,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000891814.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Thr653Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561873.1",
"strand": false,
"transcript": "ENST00000891814.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 711,
"aa_ref": "T",
"aa_start": 651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 2114,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1952,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000891816.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1952C>T",
"hgvs_p": "p.Thr651Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561875.1",
"strand": false,
"transcript": "ENST00000891816.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 700,
"aa_ref": "T",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000891820.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1919C>T",
"hgvs_p": "p.Thr640Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561879.1",
"strand": false,
"transcript": "ENST00000891820.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 695,
"aa_ref": "T",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1904,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000969514.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Thr635Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639573.1",
"strand": false,
"transcript": "ENST00000969514.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 683,
"aa_ref": "T",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001253866.2",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1868C>T",
"hgvs_p": "p.Thr623Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240795.1",
"strand": false,
"transcript": "NM_001253866.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 683,
"aa_ref": "T",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4151,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000427324.6",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1868C>T",
"hgvs_p": "p.Thr623Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398713.2",
"strand": false,
"transcript": "ENST00000427324.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 664,
"aa_ref": "T",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 1985,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1811,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000891821.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1811C>T",
"hgvs_p": "p.Thr604Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561880.1",
"strand": false,
"transcript": "ENST00000891821.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 649,
"aa_ref": "T",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1766,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000891818.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1766C>T",
"hgvs_p": "p.Thr589Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561877.1",
"strand": false,
"transcript": "ENST00000891818.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 644,
"aa_ref": "T",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000927724.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1751C>T",
"hgvs_p": "p.Thr584Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597783.1",
"strand": false,
"transcript": "ENST00000927724.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2964,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000969515.1",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1694C>T",
"hgvs_p": "p.Thr565Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639574.1",
"strand": false,
"transcript": "ENST00000969515.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 592,
"aa_ref": "T",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000491542.7",
"gene_hgnc_id": 12843,
"gene_symbol": "YME1L1",
"hgvs_c": "c.1595C>T",
"hgvs_p": "p.Thr532Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473557.2",
"strand": false,
"transcript": "ENST00000491542.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 486,
"aa_ref": "T",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1277,
"consequences": [
"missense_variant"
],
"exon_count": 13,
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