← 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: 7-150792156-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150792156&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM176B",
"hgnc_id": 29596,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001362691.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.2251,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4370882213115692,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1115,
"cdna_start": 692,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001101312.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326442.10",
"protein_coding": true,
"protein_id": "NP_001094782.1",
"strand": false,
"transcript": "NM_001101312.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1115,
"cdna_start": 692,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000326442.10",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001101312.2",
"protein_coding": true,
"protein_id": "ENSP00000318409.5",
"strand": false,
"transcript": "ENST00000326442.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 993,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000447204.6",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410269.2",
"strand": false,
"transcript": "ENST00000447204.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 957,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854817.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524876.1",
"strand": false,
"transcript": "ENST00000854817.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 957,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854831.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524890.1",
"strand": false,
"transcript": "ENST00000854831.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1262,
"cdna_start": 830,
"cds_end": null,
"cds_length": 957,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854844.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524903.1",
"strand": false,
"transcript": "ENST00000854844.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 301,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": 770,
"cds_end": null,
"cds_length": 906,
"cds_start": 713,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854854.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524913.1",
"strand": false,
"transcript": "ENST00000854854.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": 758,
"cds_end": null,
"cds_length": 861,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001362691.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349620.1",
"strand": false,
"transcript": "NM_001362691.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1173,
"cdna_start": 750,
"cds_end": null,
"cds_length": 861,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001362692.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349621.1",
"strand": false,
"transcript": "NM_001362692.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": 705,
"cds_end": null,
"cds_length": 837,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854850.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.644G>T",
"hgvs_p": "p.Arg215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524909.1",
"strand": false,
"transcript": "ENST00000854850.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1123,
"cdna_start": 700,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001101311.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001094781.1",
"strand": false,
"transcript": "NM_001101311.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 993,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014020.4",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_054739.3",
"strand": false,
"transcript": "NM_014020.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 783,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000429904.6",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397810.2",
"strand": false,
"transcript": "ENST00000429904.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1265,
"cdna_start": 826,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000492607.5",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419258.1",
"strand": false,
"transcript": "ENST00000492607.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 764,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854800.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524859.1",
"strand": false,
"transcript": "ENST00000854800.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 812,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854801.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524860.1",
"strand": false,
"transcript": "ENST00000854801.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854803.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524861.1",
"strand": false,
"transcript": "ENST00000854803.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854804.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524862.1",
"strand": false,
"transcript": "ENST00000854804.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 1993,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854805.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524864.1",
"strand": false,
"transcript": "ENST00000854805.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854807.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524866.1",
"strand": false,
"transcript": "ENST00000854807.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 761,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854808.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524867.1",
"strand": false,
"transcript": "ENST00000854808.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854811.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524870.1",
"strand": false,
"transcript": "ENST00000854811.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854812.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524871.1",
"strand": false,
"transcript": "ENST00000854812.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854813.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524872.1",
"strand": false,
"transcript": "ENST00000854813.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854814.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524873.1",
"strand": false,
"transcript": "ENST00000854814.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854815.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524874.1",
"strand": false,
"transcript": "ENST00000854815.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854816.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524875.1",
"strand": false,
"transcript": "ENST00000854816.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854818.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524877.1",
"strand": false,
"transcript": "ENST00000854818.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 939,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854819.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524878.1",
"strand": false,
"transcript": "ENST00000854819.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": 744,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854820.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524879.1",
"strand": false,
"transcript": "ENST00000854820.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854821.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524880.1",
"strand": false,
"transcript": "ENST00000854821.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2265,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854822.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524881.1",
"strand": false,
"transcript": "ENST00000854822.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": 679,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854823.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524882.1",
"strand": false,
"transcript": "ENST00000854823.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854824.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524883.1",
"strand": false,
"transcript": "ENST00000854824.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854825.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524884.1",
"strand": false,
"transcript": "ENST00000854825.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854826.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524885.1",
"strand": false,
"transcript": "ENST00000854826.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854827.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524886.1",
"strand": false,
"transcript": "ENST00000854827.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854828.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524887.1",
"strand": false,
"transcript": "ENST00000854828.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854829.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524888.1",
"strand": false,
"transcript": "ENST00000854829.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1582,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854830.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524889.1",
"strand": false,
"transcript": "ENST00000854830.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854832.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524891.1",
"strand": false,
"transcript": "ENST00000854832.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854833.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524892.1",
"strand": false,
"transcript": "ENST00000854833.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854836.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524895.1",
"strand": false,
"transcript": "ENST00000854836.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 791,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854838.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524897.1",
"strand": false,
"transcript": "ENST00000854838.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 854,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854839.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524898.1",
"strand": false,
"transcript": "ENST00000854839.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 829,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854840.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524899.1",
"strand": false,
"transcript": "ENST00000854840.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1236,
"cdna_start": 804,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854841.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524900.1",
"strand": false,
"transcript": "ENST00000854841.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 869,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854842.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524901.1",
"strand": false,
"transcript": "ENST00000854842.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 932,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854843.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524902.1",
"strand": false,
"transcript": "ENST00000854843.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1244,
"cdna_start": 813,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854847.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524906.1",
"strand": false,
"transcript": "ENST00000854847.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 712,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854851.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524910.1",
"strand": false,
"transcript": "ENST00000854851.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": 715,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854853.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524912.1",
"strand": false,
"transcript": "ENST00000854853.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1223,
"cdna_start": 807,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854856.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524915.1",
"strand": false,
"transcript": "ENST00000854856.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 732,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854858.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524917.1",
"strand": false,
"transcript": "ENST00000854858.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 933,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854860.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524919.1",
"strand": false,
"transcript": "ENST00000854860.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 859,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854862.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524921.1",
"strand": false,
"transcript": "ENST00000854862.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854863.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524922.1",
"strand": false,
"transcript": "ENST00000854863.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854864.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524923.1",
"strand": false,
"transcript": "ENST00000854864.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1109,
"cdna_start": 675,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854865.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524924.1",
"strand": false,
"transcript": "ENST00000854865.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854866.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524925.1",
"strand": false,
"transcript": "ENST00000854866.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 684,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854867.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524926.1",
"strand": false,
"transcript": "ENST00000854867.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854869.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524928.1",
"strand": false,
"transcript": "ENST00000854869.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": 846,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854870.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524929.1",
"strand": false,
"transcript": "ENST00000854870.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854871.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524930.1",
"strand": false,
"transcript": "ENST00000854871.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854872.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524931.1",
"strand": false,
"transcript": "ENST00000854872.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 904,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854874.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524933.1",
"strand": false,
"transcript": "ENST00000854874.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854875.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524934.1",
"strand": false,
"transcript": "ENST00000854875.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 890,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854876.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524935.1",
"strand": false,
"transcript": "ENST00000854876.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1226,
"cdna_start": 812,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854878.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524937.1",
"strand": false,
"transcript": "ENST00000854878.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1455,
"cdna_start": 878,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854879.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524938.1",
"strand": false,
"transcript": "ENST00000854879.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 656,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854880.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524939.1",
"strand": false,
"transcript": "ENST00000854880.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854806.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524865.1",
"strand": false,
"transcript": "ENST00000854806.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854809.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524868.1",
"strand": false,
"transcript": "ENST00000854809.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1423,
"cdna_start": 989,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854834.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524893.1",
"strand": false,
"transcript": "ENST00000854834.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1409,
"cdna_start": 975,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854837.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524896.1",
"strand": false,
"transcript": "ENST00000854837.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1172,
"cdna_start": 738,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854845.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524904.1",
"strand": false,
"transcript": "ENST00000854845.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 680,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854846.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524905.1",
"strand": false,
"transcript": "ENST00000854846.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1798,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854848.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524907.1",
"strand": false,
"transcript": "ENST00000854848.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 860,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854859.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524918.1",
"strand": false,
"transcript": "ENST00000854859.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854873.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524932.1",
"strand": false,
"transcript": "ENST00000854873.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 664,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854877.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524936.1",
"strand": false,
"transcript": "ENST00000854877.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 666,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956466.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626525.1",
"strand": false,
"transcript": "ENST00000956466.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": 708,
"cds_end": null,
"cds_length": 810,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956467.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.617G>T",
"hgvs_p": "p.Arg206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626526.1",
"strand": false,
"transcript": "ENST00000956467.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 268,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 671,
"cds_end": null,
"cds_length": 807,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854857.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524916.1",
"strand": false,
"transcript": "ENST00000854857.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": 581,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001101314.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001094784.1",
"strand": false,
"transcript": "NM_001101314.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": 584,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000450753.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404831.2",
"strand": false,
"transcript": "ENST00000450753.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": 894,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854810.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524869.1",
"strand": false,
"transcript": "ENST00000854810.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1287,
"cdna_start": 853,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854835.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524894.1",
"strand": false,
"transcript": "ENST00000854835.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854849.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524908.1",
"strand": false,
"transcript": "ENST00000854849.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1033,
"cdna_start": 619,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854855.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524914.1",
"strand": false,
"transcript": "ENST00000854855.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1040,
"cdna_start": 624,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854861.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524920.1",
"strand": false,
"transcript": "ENST00000854861.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 730,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854868.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524927.1",
"strand": false,
"transcript": "ENST00000854868.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 4267,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956468.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626527.1",
"strand": false,
"transcript": "ENST00000956468.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 232,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 997,
"cdna_start": 563,
"cds_end": null,
"cds_length": 699,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854852.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.506G>T",
"hgvs_p": "p.Arg169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524911.1",
"strand": false,
"transcript": "ENST00000854852.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 342,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1029,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047420258.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.836G>T",
"hgvs_p": "p.Arg279Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276214.1",
"strand": false,
"transcript": "XM_047420258.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 649,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024446734.2",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302502.1",
"strand": false,
"transcript": "XM_024446734.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "R",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 730,
"cds_end": null,
"cds_length": 813,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047420259.1",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.620G>T",
"hgvs_p": "p.Arg207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276215.1",
"strand": false,
"transcript": "XM_047420259.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 589,
"cds_end": null,
"cds_length": 702,
"cds_start": 509,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006715933.5",
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"hgvs_c": "c.509G>T",
"hgvs_p": "p.Arg170Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715996.2",
"strand": false,
"transcript": "XM_006715933.5",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs138108608",
"effect": "missense_variant",
"frequency_reference_population": 0.0000043383516,
"gene_hgnc_id": 29596,
"gene_symbol": "TMEM176B",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000342143,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.000013146,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.371,
"pos": 150792156,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.083,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001362691.2"
}
]
}