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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: 3-194604372-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=194604372&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 194604372,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001166305.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"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.1091C>A",
"hgvs_p": "p.Pro364Gln",
"transcript": "NM_001011655.3",
"protein_id": "NP_001011655.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 428,
"cds_start": 1091,
"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": "P",
"aa_alt": "Q",
"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.1091C>A",
"hgvs_p": "p.Pro364Gln",
"transcript": "ENST00000347147.9",
"protein_id": "ENSP00000333355.6",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 428,
"cds_start": 1091,
"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": "P",
"aa_alt": "Q",
"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.1232C>A",
"hgvs_p": "p.Pro411Gln",
"transcript": "ENST00000392432.6",
"protein_id": "ENSP00000376227.2",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 475,
"cds_start": 1232,
"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": "P",
"aa_alt": "Q",
"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.1091C>A",
"hgvs_p": "p.Pro364Gln",
"transcript": "ENST00000473092.5",
"protein_id": "ENSP00000418674.1",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 438,
"cds_start": 1091,
"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": "R",
"aa_alt": "S",
"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.1087C>A",
"hgvs_p": "p.Arg363Ser",
"transcript": "ENST00000381975.7",
"protein_id": "ENSP00000371402.3",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 396,
"cds_start": 1087,
"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": "Q",
"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.365C>A",
"hgvs_p": "p.Pro122Gln",
"transcript": "ENST00000432352.5",
"protein_id": "ENSP00000409963.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 197,
"cds_start": 365,
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.283C>A",
"hgvs_p": "p.Arg95Ser",
"transcript": "ENST00000429560.1",
"protein_id": "ENSP00000403053.1",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 119,
"cds_start": 283,
"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.855C>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": "P",
"aa_alt": "Q",
"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.1232C>A",
"hgvs_p": "p.Pro411Gln",
"transcript": "NM_001166305.2",
"protein_id": "NP_001159777.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 475,
"cds_start": 1232,
"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": "P",
"aa_alt": "Q",
"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.1148C>A",
"hgvs_p": "p.Pro383Gln",
"transcript": "ENST00000943214.1",
"protein_id": "ENSP00000613273.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 458,
"cds_start": 1148,
"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": "P",
"aa_alt": "Q",
"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.1091C>A",
"hgvs_p": "p.Pro364Gln",
"transcript": "NM_138399.5",
"protein_id": "NP_612408.3",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 438,
"cds_start": 1091,
"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": "P",
"aa_alt": "Q",
"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.1112C>A",
"hgvs_p": "p.Pro371Gln",
"transcript": "ENST00000943212.1",
"protein_id": "ENSP00000613271.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 435,
"cds_start": 1112,
"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": "R",
"aa_alt": "S",
"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.1087C>A",
"hgvs_p": "p.Arg363Ser",
"transcript": "NM_001166306.2",
"protein_id": "NP_001159778.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 396,
"cds_start": 1087,
"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": "P",
"aa_alt": "Q",
"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.920C>A",
"hgvs_p": "p.Pro307Gln",
"transcript": "ENST00000943213.1",
"protein_id": "ENSP00000613272.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 382,
"cds_start": 920,
"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": "P",
"aa_alt": "Q",
"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.950C>A",
"hgvs_p": "p.Pro317Gln",
"transcript": "ENST00000936589.1",
"protein_id": "ENSP00000606648.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 381,
"cds_start": 950,
"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": "P",
"aa_alt": "Q",
"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.893C>A",
"hgvs_p": "p.Pro298Gln",
"transcript": "ENST00000943216.1",
"protein_id": "ENSP00000613275.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 373,
"cds_start": 893,
"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": "P",
"aa_alt": "Q",
"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.920C>A",
"hgvs_p": "p.Pro307Gln",
"transcript": "ENST00000936587.1",
"protein_id": "ENSP00000606646.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 371,
"cds_start": 920,
"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": "P",
"aa_alt": "Q",
"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.791C>A",
"hgvs_p": "p.Pro264Gln",
"transcript": "ENST00000943215.1",
"protein_id": "ENSP00000613274.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 339,
"cds_start": 791,
"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": "P",
"aa_alt": "Q",
"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.791C>A",
"hgvs_p": "p.Pro264Gln",
"transcript": "ENST00000870306.1",
"protein_id": "ENSP00000540365.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 328,
"cds_start": 791,
"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": "P",
"aa_alt": "Q",
"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.686C>A",
"hgvs_p": "p.Pro229Gln",
"transcript": "ENST00000936588.1",
"protein_id": "ENSP00000606647.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 293,
"cds_start": 686,
"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": "P",
"aa_alt": "Q",
"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.590C>A",
"hgvs_p": "p.Pro197Gln",
"transcript": "ENST00000452358.5",
"protein_id": "ENSP00000414333.1",
"transcript_support_level": 3,
"aa_start": 197,
"aa_end": null,
"aa_length": 261,
"cds_start": 590,
"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": 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+6544C>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"
},
{
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001166305.2",
"gene_symbol": "TMEM44",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001741083.2",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}