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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: 3-194604397-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=194604397&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 194604397,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001166305.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Gly356Arg",
"transcript": "NM_001011655.3",
"protein_id": "NP_001011655.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 428,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347147.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011655.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Gly356Arg",
"transcript": "ENST00000347147.9",
"protein_id": "ENSP00000333355.6",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 428,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001011655.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347147.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "ENST00000392432.6",
"protein_id": "ENSP00000376227.2",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 475,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392432.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Gly356Arg",
"transcript": "ENST00000473092.5",
"protein_id": "ENSP00000418674.1",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 438,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473092.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Gly114Arg",
"transcript": "ENST00000432352.5",
"protein_id": "ENSP00000409963.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 197,
"cds_start": 340,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432352.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Pro354Pro",
"transcript": "ENST00000381975.7",
"protein_id": "ENSP00000371402.3",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 396,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381975.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.258G>A",
"hgvs_p": "p.Pro86Pro",
"transcript": "ENST00000429560.1",
"protein_id": "ENSP00000403053.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 119,
"cds_start": 258,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.830G>A",
"hgvs_p": null,
"transcript": "ENST00000477651.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477651.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg",
"transcript": "NM_001166305.2",
"protein_id": "NP_001159777.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 475,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166305.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Gly375Arg",
"transcript": "ENST00000943214.1",
"protein_id": "ENSP00000613273.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 458,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943214.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Gly356Arg",
"transcript": "NM_138399.5",
"protein_id": "NP_612408.3",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 438,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138399.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Gly363Arg",
"transcript": "ENST00000943212.1",
"protein_id": "ENSP00000613271.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 435,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943212.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Arg",
"transcript": "ENST00000943213.1",
"protein_id": "ENSP00000613272.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 382,
"cds_start": 895,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943213.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Gly309Arg",
"transcript": "ENST00000936589.1",
"protein_id": "ENSP00000606648.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 381,
"cds_start": 925,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936589.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Gly290Arg",
"transcript": "ENST00000943216.1",
"protein_id": "ENSP00000613275.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 373,
"cds_start": 868,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943216.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Gly299Arg",
"transcript": "ENST00000936587.1",
"protein_id": "ENSP00000606646.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 371,
"cds_start": 895,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936587.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Gly256Arg",
"transcript": "ENST00000943215.1",
"protein_id": "ENSP00000613274.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 339,
"cds_start": 766,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943215.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Gly256Arg",
"transcript": "ENST00000870306.1",
"protein_id": "ENSP00000540365.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 328,
"cds_start": 766,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870306.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Arg",
"transcript": "ENST00000936588.1",
"protein_id": "ENSP00000606647.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 293,
"cds_start": 661,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936588.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Gly189Arg",
"transcript": "ENST00000452358.5",
"protein_id": "ENSP00000414333.1",
"transcript_support_level": 3,
"aa_start": 189,
"aa_end": null,
"aa_length": 261,
"cds_start": 565,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452358.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Pro354Pro",
"transcript": "NM_001166306.2",
"protein_id": "NP_001159778.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 396,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166306.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.1017+6519G>A",
"hgvs_p": null,
"transcript": "ENST00000936586.1",
"protein_id": "ENSP00000606645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.*362G>A",
"hgvs_p": null,
"transcript": "ENST00000419280.5",
"protein_id": "ENSP00000414077.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000419280.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.112G>A",
"hgvs_p": null,
"transcript": "ENST00000467284.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467284.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105374291",
"gene_hgnc_id": null,
"hgvs_c": "n.766C>T",
"hgvs_p": null,
"transcript": "XR_001741083.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001741083.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105374291",
"gene_hgnc_id": null,
"hgvs_c": "n.850C>T",
"hgvs_p": null,
"transcript": "XR_007096222.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.*362G>A",
"hgvs_p": null,
"transcript": "ENST00000419280.5",
"protein_id": "ENSP00000414077.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000419280.5"
}
],
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"dbsnp": "rs768376448",
"frequency_reference_population": 0.000028546108,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.000028795,
"gnomad_genomes_af": 0.0000262746,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.057840436697006226,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.1827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.055,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001166305.2",
"gene_symbol": "TMEM44",
"hgnc_id": 25120,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001741083.2",
"gene_symbol": "LOC105374291",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.766C>T",
"hgvs_p": null
}
],
"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
}