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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: 10-27114593-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27114593&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27114593,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_139312.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Thr645Thr",
"transcript": "NM_014263.4",
"protein_id": "NP_055078.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 716,
"cds_start": 1935,
"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": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Thr645Thr",
"transcript": "ENST00000376016.8",
"protein_id": "ENSP00000365184.3",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 716,
"cds_start": 1935,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2106C>T",
"hgvs_p": "p.Thr702Thr",
"transcript": "ENST00000326799.7",
"protein_id": "ENSP00000318480.3",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 773,
"cds_start": 2106,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2181C>T",
"hgvs_p": "p.Thr727Thr",
"transcript": "ENST00000969517.1",
"protein_id": "ENSP00000639576.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 798,
"cds_start": 2181,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2106C>T",
"hgvs_p": "p.Thr702Thr",
"transcript": "NM_139312.3",
"protein_id": "NP_647473.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 773,
"cds_start": 2106,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2013C>T",
"hgvs_p": "p.Thr671Thr",
"transcript": "ENST00000969518.1",
"protein_id": "ENSP00000639577.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 742,
"cds_start": 2013,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Thr669Thr",
"transcript": "ENST00000891817.1",
"protein_id": "ENSP00000561876.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 740,
"cds_start": 2007,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1983C>T",
"hgvs_p": "p.Thr661Thr",
"transcript": "ENST00000891815.1",
"protein_id": "ENSP00000561874.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 732,
"cds_start": 1983,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Thr645Thr",
"transcript": "ENST00000969516.1",
"protein_id": "ENSP00000639575.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 716,
"cds_start": 1935,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.Thr642Thr",
"transcript": "ENST00000891814.1",
"protein_id": "ENSP00000561873.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 713,
"cds_start": 1926,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1920C>T",
"hgvs_p": "p.Thr640Thr",
"transcript": "ENST00000891816.1",
"protein_id": "ENSP00000561875.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 711,
"cds_start": 1920,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1887C>T",
"hgvs_p": "p.Thr629Thr",
"transcript": "ENST00000891820.1",
"protein_id": "ENSP00000561879.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 700,
"cds_start": 1887,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1872C>T",
"hgvs_p": "p.Thr624Thr",
"transcript": "ENST00000969514.1",
"protein_id": "ENSP00000639573.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 695,
"cds_start": 1872,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Thr612Thr",
"transcript": "NM_001253866.2",
"protein_id": "NP_001240795.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 683,
"cds_start": 1836,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1836C>T",
"hgvs_p": "p.Thr612Thr",
"transcript": "ENST00000427324.6",
"protein_id": "ENSP00000398713.2",
"transcript_support_level": 3,
"aa_start": 612,
"aa_end": null,
"aa_length": 683,
"cds_start": 1836,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Thr593Thr",
"transcript": "ENST00000891821.1",
"protein_id": "ENSP00000561880.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 664,
"cds_start": 1779,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1734C>T",
"hgvs_p": "p.Thr578Thr",
"transcript": "ENST00000891818.1",
"protein_id": "ENSP00000561877.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 649,
"cds_start": 1734,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1719C>T",
"hgvs_p": "p.Thr573Thr",
"transcript": "ENST00000927724.1",
"protein_id": "ENSP00000597783.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 644,
"cds_start": 1719,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1662C>T",
"hgvs_p": "p.Thr554Thr",
"transcript": "ENST00000969515.1",
"protein_id": "ENSP00000639574.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 625,
"cds_start": 1662,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1563C>T",
"hgvs_p": "p.Thr521Thr",
"transcript": "ENST00000491542.7",
"protein_id": "ENSP00000473557.2",
"transcript_support_level": 2,
"aa_start": 521,
"aa_end": null,
"aa_length": 592,
"cds_start": 1563,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.1245C>T",
"hgvs_p": "p.Thr415Thr",
"transcript": "ENST00000927723.1",
"protein_id": "ENSP00000597782.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 486,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927723.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Thr669Thr",
"transcript": "XM_011519300.4",
"protein_id": "XP_011517602.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
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{
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],
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],
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"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_139312.3",
"gene_symbol": "YME1L1",
"hgnc_id": 12843,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2106C>T",
"hgvs_p": "p.Thr702Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}