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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: 10-27112061-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27112061&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27112061,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_139312.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2067C>A",
"hgvs_p": "p.Leu689Leu",
"transcript": "NM_014263.4",
"protein_id": "NP_055078.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 716,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376016.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014263.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2067C>A",
"hgvs_p": "p.Leu689Leu",
"transcript": "ENST00000376016.8",
"protein_id": "ENSP00000365184.3",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 716,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376016.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2238C>A",
"hgvs_p": "p.Leu746Leu",
"transcript": "ENST00000326799.7",
"protein_id": "ENSP00000318480.3",
"transcript_support_level": 1,
"aa_start": 746,
"aa_end": null,
"aa_length": 773,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326799.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2313C>A",
"hgvs_p": "p.Leu771Leu",
"transcript": "ENST00000969517.1",
"protein_id": "ENSP00000639576.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 798,
"cds_start": 2313,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969517.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2238C>A",
"hgvs_p": "p.Leu746Leu",
"transcript": "NM_139312.3",
"protein_id": "NP_647473.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 773,
"cds_start": 2238,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139312.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2145C>A",
"hgvs_p": "p.Leu715Leu",
"transcript": "ENST00000969518.1",
"protein_id": "ENSP00000639577.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 742,
"cds_start": 2145,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969518.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2139C>A",
"hgvs_p": "p.Leu713Leu",
"transcript": "ENST00000891817.1",
"protein_id": "ENSP00000561876.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 740,
"cds_start": 2139,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891817.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2115C>A",
"hgvs_p": "p.Leu705Leu",
"transcript": "ENST00000891815.1",
"protein_id": "ENSP00000561874.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 732,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891815.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2067C>A",
"hgvs_p": "p.Leu689Leu",
"transcript": "ENST00000969516.1",
"protein_id": "ENSP00000639575.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 716,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969516.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2058C>A",
"hgvs_p": "p.Leu686Leu",
"transcript": "ENST00000891814.1",
"protein_id": "ENSP00000561873.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 713,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891814.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2052C>A",
"hgvs_p": "p.Leu684Leu",
"transcript": "ENST00000891816.1",
"protein_id": "ENSP00000561875.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 711,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891816.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2019C>A",
"hgvs_p": "p.Leu673Leu",
"transcript": "ENST00000891820.1",
"protein_id": "ENSP00000561879.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 700,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891820.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2004C>A",
"hgvs_p": "p.Leu668Leu",
"transcript": "ENST00000969514.1",
"protein_id": "ENSP00000639573.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 695,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969514.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1980C>A",
"hgvs_p": "p.Leu660Leu",
"transcript": "ENST00000891819.1",
"protein_id": "ENSP00000561878.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 687,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891819.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1968C>A",
"hgvs_p": "p.Leu656Leu",
"transcript": "NM_001253866.2",
"protein_id": "NP_001240795.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 683,
"cds_start": 1968,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253866.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1968C>A",
"hgvs_p": "p.Leu656Leu",
"transcript": "ENST00000427324.6",
"protein_id": "ENSP00000398713.2",
"transcript_support_level": 3,
"aa_start": 656,
"aa_end": null,
"aa_length": 683,
"cds_start": 1968,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427324.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1911C>A",
"hgvs_p": "p.Leu637Leu",
"transcript": "ENST00000891821.1",
"protein_id": "ENSP00000561880.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 664,
"cds_start": 1911,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891821.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1866C>A",
"hgvs_p": "p.Leu622Leu",
"transcript": "ENST00000891818.1",
"protein_id": "ENSP00000561877.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 649,
"cds_start": 1866,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891818.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1851C>A",
"hgvs_p": "p.Leu617Leu",
"transcript": "ENST00000927724.1",
"protein_id": "ENSP00000597783.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 644,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927724.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1794C>A",
"hgvs_p": "p.Leu598Leu",
"transcript": "ENST00000969515.1",
"protein_id": "ENSP00000639574.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 625,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969515.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1695C>A",
"hgvs_p": "p.Leu565Leu",
"transcript": "ENST00000491542.7",
"protein_id": "ENSP00000473557.2",
"transcript_support_level": 2,
"aa_start": 565,
"aa_end": null,
"aa_length": 592,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491542.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1377C>A",
"hgvs_p": "p.Leu459Leu",
"transcript": "ENST00000927723.1",
"protein_id": "ENSP00000597782.1",
"transcript_support_level": null,
"aa_start": 459,
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{
"aa_ref": "L",
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],
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"feature": "XM_011519300.4"
}
],
"gene_symbol": "YME1L1",
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.321,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_139312.3",
"gene_symbol": "YME1L1",
"hgnc_id": 12843,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2238C>A",
"hgvs_p": "p.Leu746Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}