← Back to variant description
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: 9-128538017-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128538017&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128538017,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001411013.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1808G>T",
"hgvs_p": "p.Arg603Leu",
"transcript": "NM_001003722.2",
"protein_id": "NP_001003722.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 698,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "ENST00000309971.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003722.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1808G>T",
"hgvs_p": "p.Arg603Leu",
"transcript": "ENST00000309971.9",
"protein_id": "ENSP00000308622.5",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 698,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "NM_001003722.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309971.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1808G>T",
"hgvs_p": "p.Arg603Leu",
"transcript": "ENST00000372770.4",
"protein_id": "ENSP00000361856.4",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 659,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372770.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1865G>T",
"hgvs_p": "p.Arg622Leu",
"transcript": "ENST00000898507.1",
"protein_id": "ENSP00000568566.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 717,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898507.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1838G>T",
"hgvs_p": "p.Arg613Leu",
"transcript": "ENST00000898511.1",
"protein_id": "ENSP00000568570.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 708,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898511.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1835G>T",
"hgvs_p": "p.Arg612Leu",
"transcript": "NM_001411013.1",
"protein_id": "NP_001397942.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 707,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411013.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1835G>T",
"hgvs_p": "p.Arg612Leu",
"transcript": "ENST00000683748.1",
"protein_id": "ENSP00000507377.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 707,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683748.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1823G>T",
"hgvs_p": "p.Arg608Leu",
"transcript": "ENST00000961293.1",
"protein_id": "ENSP00000631352.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 703,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961293.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1805G>T",
"hgvs_p": "p.Arg602Leu",
"transcript": "ENST00000898506.1",
"protein_id": "ENSP00000568565.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 697,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898506.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1805G>T",
"hgvs_p": "p.Arg602Leu",
"transcript": "ENST00000961294.1",
"protein_id": "ENSP00000631353.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 697,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961294.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1775G>T",
"hgvs_p": "p.Arg592Leu",
"transcript": "ENST00000937195.1",
"protein_id": "ENSP00000607254.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 687,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937195.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1808G>T",
"hgvs_p": "p.Arg603Leu",
"transcript": "ENST00000684331.1",
"protein_id": "ENSP00000507431.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 680,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684331.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1724G>T",
"hgvs_p": "p.Arg575Leu",
"transcript": "ENST00000898508.1",
"protein_id": "ENSP00000568567.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 670,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898508.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1724G>T",
"hgvs_p": "p.Arg575Leu",
"transcript": "ENST00000961296.1",
"protein_id": "ENSP00000631355.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 670,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961296.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1697G>T",
"hgvs_p": "p.Arg566Leu",
"transcript": "ENST00000898503.1",
"protein_id": "ENSP00000568562.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 661,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898503.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1808G>T",
"hgvs_p": "p.Arg603Leu",
"transcript": "NM_001499.2",
"protein_id": "NP_001490.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 659,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001499.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1625G>T",
"hgvs_p": "p.Arg542Leu",
"transcript": "ENST00000961298.1",
"protein_id": "ENSP00000631357.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 637,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961298.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1613G>T",
"hgvs_p": "p.Arg538Leu",
"transcript": "ENST00000961297.1",
"protein_id": "ENSP00000631356.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 633,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961297.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1595G>T",
"hgvs_p": "p.Arg532Leu",
"transcript": "ENST00000684646.1",
"protein_id": "ENSP00000507723.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 627,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684646.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1586G>T",
"hgvs_p": "p.Arg529Leu",
"transcript": "ENST00000898505.1",
"protein_id": "ENSP00000568564.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 624,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898505.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1502G>T",
"hgvs_p": "p.Arg501Leu",
"transcript": "ENST00000961295.1",
"protein_id": "ENSP00000631354.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 596,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961295.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Arg492Leu",
"transcript": "ENST00000898504.1",
"protein_id": "ENSP00000568563.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 587,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898504.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Arg457Leu",
"transcript": "ENST00000898510.1",
"protein_id": "ENSP00000568569.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 552,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898510.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Arg448Leu",
"transcript": "ENST00000684139.1",
"protein_id": "ENSP00000507295.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 543,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684139.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.452G>T",
"hgvs_p": "p.Arg151Leu",
"transcript": "ENST00000898509.1",
"protein_id": "ENSP00000568568.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 246,
"cds_start": 452,
"cds_end": null,
"cds_length": 741,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898509.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1844G>T",
"hgvs_p": "p.Arg615Leu",
"transcript": "XM_011518549.2",
"protein_id": "XP_011516851.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 710,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518549.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1844G>T",
"hgvs_p": "p.Arg615Leu",
"transcript": "XM_011518550.2",
"protein_id": "XP_011516852.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 710,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518550.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1817G>T",
"hgvs_p": "p.Arg606Leu",
"transcript": "XM_006717060.4",
"protein_id": "XP_006717123.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 701,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717060.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1817G>T",
"hgvs_p": "p.Arg606Leu",
"transcript": "XM_024447519.2",
"protein_id": "XP_024303287.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 701,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447519.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1817G>T",
"hgvs_p": "p.Arg606Leu",
"transcript": "XM_047423234.1",
"protein_id": "XP_047279190.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 701,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423234.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1085G>T",
"hgvs_p": "p.Arg362Leu",
"transcript": "XM_047423235.1",
"protein_id": "XP_047279191.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 457,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423235.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1058G>T",
"hgvs_p": "p.Arg353Leu",
"transcript": "XM_047423236.1",
"protein_id": "XP_047279192.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 448,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1776+1533G>T",
"hgvs_p": null,
"transcript": "ENST00000684314.1",
"protein_id": "ENSP00000507700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*879G>T",
"hgvs_p": null,
"transcript": "ENST00000683044.1",
"protein_id": "ENSP00000507095.1",
"transcript_support_level": null,
"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": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*1807G>T",
"hgvs_p": null,
"transcript": "ENST00000683288.1",
"protein_id": "ENSP00000507477.1",
"transcript_support_level": null,
"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": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*484G>T",
"hgvs_p": null,
"transcript": "ENST00000683905.1",
"protein_id": "ENSP00000506960.1",
"transcript_support_level": null,
"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": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.1521G>T",
"hgvs_p": null,
"transcript": "ENST00000684210.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.446G>T",
"hgvs_p": null,
"transcript": "ENST00000684463.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684463.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*879G>T",
"hgvs_p": null,
"transcript": "ENST00000683044.1",
"protein_id": "ENSP00000507095.1",
"transcript_support_level": null,
"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": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*1807G>T",
"hgvs_p": null,
"transcript": "ENST00000683288.1",
"protein_id": "ENSP00000507477.1",
"transcript_support_level": null,
"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": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*484G>T",
"hgvs_p": null,
"transcript": "ENST00000683905.1",
"protein_id": "ENSP00000506960.1",
"transcript_support_level": null,
"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": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228395",
"gene_hgnc_id": null,
"hgvs_c": "n.434-1062C>A",
"hgvs_p": null,
"transcript": "ENST00000434999.4",
"protein_id": null,
"transcript_support_level": 5,
"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": 960,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000434999.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC101929270",
"gene_hgnc_id": null,
"hgvs_c": "n.353-1062C>A",
"hgvs_p": null,
"transcript": "NR_188457.1",
"protein_id": null,
"transcript_support_level": null,
"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": 871,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_188457.1"
}
],
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"dbsnp": "rs376686581",
"frequency_reference_population": 0.0000018615618,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000137038,
"gnomad_genomes_af": 0.00000657471,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8809502124786377,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.665,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.203,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.11,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001411013.1",
"gene_symbol": "GLE1",
"hgnc_id": 4315,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1835G>T",
"hgvs_p": "p.Arg612Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_188457.1",
"gene_symbol": "LOC101929270",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.353-1062C>A",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000434999.4",
"gene_symbol": "ENSG00000228395",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.434-1062C>A",
"hgvs_p": null
}
],
"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
}