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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: 11-72841471-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72841471&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72841471,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014824.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "NM_014824.3",
"protein_id": "NP_055639.2",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 740,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409418.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014824.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro",
"transcript": "ENST00000409418.9",
"protein_id": "ENSP00000386722.4",
"transcript_support_level": 2,
"aa_start": 680,
"aa_end": null,
"aa_length": 740,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014824.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409418.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1871G>C",
"hgvs_p": "p.Arg624Pro",
"transcript": "ENST00000311172.11",
"protein_id": "ENSP00000308978.7",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 684,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311172.11"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.*22-1146C>G",
"hgvs_p": null,
"transcript": "ENST00000534905.5",
"protein_id": "ENSP00000441189.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534905.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.2111G>C",
"hgvs_p": "p.Arg704Pro",
"transcript": "ENST00000409314.5",
"protein_id": "ENSP00000386987.1",
"transcript_support_level": 5,
"aa_start": 704,
"aa_end": null,
"aa_length": 764,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409314.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.2099G>C",
"hgvs_p": "p.Arg700Pro",
"transcript": "ENST00000891583.1",
"protein_id": "ENSP00000561642.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 760,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891583.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.2084G>C",
"hgvs_p": "p.Arg695Pro",
"transcript": "ENST00000891582.1",
"protein_id": "ENSP00000561641.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 755,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891582.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.2063G>C",
"hgvs_p": "p.Arg688Pro",
"transcript": "ENST00000891581.1",
"protein_id": "ENSP00000561640.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 748,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891581.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.2033G>C",
"hgvs_p": "p.Arg678Pro",
"transcript": "ENST00000891572.1",
"protein_id": "ENSP00000561631.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 738,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891572.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1967G>C",
"hgvs_p": "p.Arg656Pro",
"transcript": "ENST00000891579.1",
"protein_id": "ENSP00000561638.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 716,
"cds_start": 1967,
"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": "ENST00000891579.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1943G>C",
"hgvs_p": "p.Arg648Pro",
"transcript": "ENST00000891576.1",
"protein_id": "ENSP00000561635.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 708,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891576.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1940G>C",
"hgvs_p": "p.Arg647Pro",
"transcript": "ENST00000891577.1",
"protein_id": "ENSP00000561636.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 707,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891577.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1934G>C",
"hgvs_p": "p.Arg645Pro",
"transcript": "ENST00000891580.1",
"protein_id": "ENSP00000561639.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 705,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891580.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1922G>C",
"hgvs_p": "p.Arg641Pro",
"transcript": "ENST00000960170.1",
"protein_id": "ENSP00000630229.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 701,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960170.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1904G>C",
"hgvs_p": "p.Arg635Pro",
"transcript": "ENST00000891575.1",
"protein_id": "ENSP00000561634.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 695,
"cds_start": 1904,
"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": "ENST00000891575.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1901G>C",
"hgvs_p": "p.Arg634Pro",
"transcript": "ENST00000960169.1",
"protein_id": "ENSP00000630228.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 694,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960169.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1877G>C",
"hgvs_p": "p.Arg626Pro",
"transcript": "ENST00000891573.1",
"protein_id": "ENSP00000561632.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 686,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891573.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1817G>C",
"hgvs_p": "p.Arg606Pro",
"transcript": "ENST00000891574.1",
"protein_id": "ENSP00000561633.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 666,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891574.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1631G>C",
"hgvs_p": "p.Arg544Pro",
"transcript": "ENST00000458644.6",
"protein_id": "ENSP00000402972.2",
"transcript_support_level": 2,
"aa_start": 544,
"aa_end": null,
"aa_length": 604,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458644.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1499G>C",
"hgvs_p": "p.Arg500Pro",
"transcript": "ENST00000891578.1",
"protein_id": "ENSP00000561637.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 560,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891578.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1976G>C",
"hgvs_p": "p.Arg659Pro",
"transcript": "XM_011545409.2",
"protein_id": "XP_011543711.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 719,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545409.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCHSD2",
"gene_hgnc_id": 29114,
"hgvs_c": "c.1964G>C",
"hgvs_p": "p.Arg655Pro",
"transcript": "XM_011545410.3",
"protein_id": "XP_011543712.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 715,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
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{
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],
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{
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},
{
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],
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},
{
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],
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"gene_symbol": "ATG16L2",
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"feature": "XM_005274376.6"
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{
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],
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "FCHSD2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409263.6"
},
{
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"strand": false,
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"3_prime_UTR_variant"
],
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"gene_symbol": "FCHSD2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409263.6"
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],
"gene_symbol": "FCHSD2",
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"dbsnp": "rs555444484",
"frequency_reference_population": 6.855419e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85542e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41338425874710083,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.1709,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.372,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014824.3",
"gene_symbol": "FCHSD2",
"hgnc_id": 29114,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2039G>C",
"hgvs_p": "p.Arg680Pro"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534905.5",
"gene_symbol": "ATG16L2",
"hgnc_id": 25464,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*22-1146C>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}