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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: 10-27111990-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27111990&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27111990,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_139312.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2138T>C",
"hgvs_p": "p.Leu713Ser",
"transcript": "NM_014263.4",
"protein_id": "NP_055078.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 716,
"cds_start": 2138,
"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": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2138T>C",
"hgvs_p": "p.Leu713Ser",
"transcript": "ENST00000376016.8",
"protein_id": "ENSP00000365184.3",
"transcript_support_level": 1,
"aa_start": 713,
"aa_end": null,
"aa_length": 716,
"cds_start": 2138,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2309T>C",
"hgvs_p": "p.Leu770Ser",
"transcript": "ENST00000326799.7",
"protein_id": "ENSP00000318480.3",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 773,
"cds_start": 2309,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2384T>C",
"hgvs_p": "p.Leu795Ser",
"transcript": "ENST00000969517.1",
"protein_id": "ENSP00000639576.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 798,
"cds_start": 2384,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2309T>C",
"hgvs_p": "p.Leu770Ser",
"transcript": "NM_139312.3",
"protein_id": "NP_647473.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 773,
"cds_start": 2309,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2216T>C",
"hgvs_p": "p.Leu739Ser",
"transcript": "ENST00000969518.1",
"protein_id": "ENSP00000639577.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 742,
"cds_start": 2216,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2210T>C",
"hgvs_p": "p.Leu737Ser",
"transcript": "ENST00000891817.1",
"protein_id": "ENSP00000561876.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 740,
"cds_start": 2210,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2186T>C",
"hgvs_p": "p.Leu729Ser",
"transcript": "ENST00000891815.1",
"protein_id": "ENSP00000561874.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 732,
"cds_start": 2186,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2138T>C",
"hgvs_p": "p.Leu713Ser",
"transcript": "ENST00000969516.1",
"protein_id": "ENSP00000639575.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 716,
"cds_start": 2138,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2129T>C",
"hgvs_p": "p.Leu710Ser",
"transcript": "ENST00000891814.1",
"protein_id": "ENSP00000561873.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 713,
"cds_start": 2129,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2123T>C",
"hgvs_p": "p.Leu708Ser",
"transcript": "ENST00000891816.1",
"protein_id": "ENSP00000561875.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 711,
"cds_start": 2123,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2090T>C",
"hgvs_p": "p.Leu697Ser",
"transcript": "ENST00000891820.1",
"protein_id": "ENSP00000561879.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 700,
"cds_start": 2090,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2075T>C",
"hgvs_p": "p.Leu692Ser",
"transcript": "ENST00000969514.1",
"protein_id": "ENSP00000639573.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 695,
"cds_start": 2075,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2051T>C",
"hgvs_p": "p.Leu684Ser",
"transcript": "ENST00000891819.1",
"protein_id": "ENSP00000561878.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 687,
"cds_start": 2051,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2039T>C",
"hgvs_p": "p.Leu680Ser",
"transcript": "NM_001253866.2",
"protein_id": "NP_001240795.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 683,
"cds_start": 2039,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2039T>C",
"hgvs_p": "p.Leu680Ser",
"transcript": "ENST00000427324.6",
"protein_id": "ENSP00000398713.2",
"transcript_support_level": 3,
"aa_start": 680,
"aa_end": null,
"aa_length": 683,
"cds_start": 2039,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1982T>C",
"hgvs_p": "p.Leu661Ser",
"transcript": "ENST00000891821.1",
"protein_id": "ENSP00000561880.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 664,
"cds_start": 1982,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1937T>C",
"hgvs_p": "p.Leu646Ser",
"transcript": "ENST00000891818.1",
"protein_id": "ENSP00000561877.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 649,
"cds_start": 1937,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1922T>C",
"hgvs_p": "p.Leu641Ser",
"transcript": "ENST00000927724.1",
"protein_id": "ENSP00000597783.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 644,
"cds_start": 1922,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1865T>C",
"hgvs_p": "p.Leu622Ser",
"transcript": "ENST00000969515.1",
"protein_id": "ENSP00000639574.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 625,
"cds_start": 1865,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1766T>C",
"hgvs_p": "p.Leu589Ser",
"transcript": "ENST00000491542.7",
"protein_id": "ENSP00000473557.2",
"transcript_support_level": 2,
"aa_start": 589,
"aa_end": null,
"aa_length": 592,
"cds_start": 1766,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1448T>C",
"hgvs_p": "p.Leu483Ser",
"transcript": "ENST00000927723.1",
"protein_id": "ENSP00000597782.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 486,
"cds_start": 1448,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2210T>C",
"hgvs_p": "p.Leu737Ser",
"transcript": "XM_011519300.4",
"protein_id": "XP_011517602.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 740,
"cds_start": 2210,
"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": "XM_011519300.4"
}
],
"gene_symbol": "YME1L1",
"gene_hgnc_id": 12843,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.695035994052887,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.841,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9516,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.294,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139312.3",
"gene_symbol": "YME1L1",
"hgnc_id": 12843,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2309T>C",
"hgvs_p": "p.Leu770Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}