← 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: 7-100620881-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100620881&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100620881,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003227.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2382C>T",
"hgvs_p": "p.Val794Val",
"transcript": "NM_003227.4",
"protein_id": "NP_003218.2",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 801,
"cds_start": 2382,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223051.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003227.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2382C>T",
"hgvs_p": "p.Val794Val",
"transcript": "ENST00000223051.8",
"protein_id": "ENSP00000223051.3",
"transcript_support_level": 1,
"aa_start": 794,
"aa_end": null,
"aa_length": 801,
"cds_start": 2382,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223051.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2478C>T",
"hgvs_p": "p.Val826Val",
"transcript": "ENST00000855275.1",
"protein_id": "ENSP00000525334.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 833,
"cds_start": 2478,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855275.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2475C>T",
"hgvs_p": "p.Val825Val",
"transcript": "ENST00000855257.1",
"protein_id": "ENSP00000525316.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 832,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855257.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2466C>T",
"hgvs_p": "p.Val822Val",
"transcript": "ENST00000855265.1",
"protein_id": "ENSP00000525324.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 829,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855265.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2439C>T",
"hgvs_p": "p.Val813Val",
"transcript": "ENST00000855221.1",
"protein_id": "ENSP00000525280.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 820,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855221.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2439C>T",
"hgvs_p": "p.Val813Val",
"transcript": "ENST00000855229.1",
"protein_id": "ENSP00000525288.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 820,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855229.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2439C>T",
"hgvs_p": "p.Val813Val",
"transcript": "ENST00000855234.1",
"protein_id": "ENSP00000525293.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 820,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855234.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2439C>T",
"hgvs_p": "p.Val813Val",
"transcript": "ENST00000855277.1",
"protein_id": "ENSP00000525336.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 820,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855277.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2424C>T",
"hgvs_p": "p.Val808Val",
"transcript": "ENST00000855238.1",
"protein_id": "ENSP00000525297.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 815,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855238.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2424C>T",
"hgvs_p": "p.Val808Val",
"transcript": "ENST00000855259.1",
"protein_id": "ENSP00000525318.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 815,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855259.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2424C>T",
"hgvs_p": "p.Val808Val",
"transcript": "ENST00000855263.1",
"protein_id": "ENSP00000525322.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 815,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855263.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2421C>T",
"hgvs_p": "p.Val807Val",
"transcript": "ENST00000855226.1",
"protein_id": "ENSP00000525285.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 814,
"cds_start": 2421,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855226.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2421C>T",
"hgvs_p": "p.Val807Val",
"transcript": "ENST00000855236.1",
"protein_id": "ENSP00000525295.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 814,
"cds_start": 2421,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855236.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2409C>T",
"hgvs_p": "p.Val803Val",
"transcript": "ENST00000855230.1",
"protein_id": "ENSP00000525289.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 810,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855230.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2409C>T",
"hgvs_p": "p.Val803Val",
"transcript": "ENST00000855252.1",
"protein_id": "ENSP00000525311.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 810,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855252.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2409C>T",
"hgvs_p": "p.Val803Val",
"transcript": "ENST00000855270.1",
"protein_id": "ENSP00000525329.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 810,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855270.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2382C>T",
"hgvs_p": "p.Val794Val",
"transcript": "ENST00000462107.1",
"protein_id": "ENSP00000420525.1",
"transcript_support_level": 5,
"aa_start": 794,
"aa_end": null,
"aa_length": 801,
"cds_start": 2382,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462107.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2382C>T",
"hgvs_p": "p.Val794Val",
"transcript": "ENST00000855220.1",
"protein_id": "ENSP00000525279.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 801,
"cds_start": 2382,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855220.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2379C>T",
"hgvs_p": "p.Val793Val",
"transcript": "ENST00000855262.1",
"protein_id": "ENSP00000525321.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 800,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855262.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2379C>T",
"hgvs_p": "p.Val793Val",
"transcript": "ENST00000855272.1",
"protein_id": "ENSP00000525331.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 800,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855272.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2379C>T",
"hgvs_p": "p.Val793Val",
"transcript": "ENST00000855273.1",
"protein_id": "ENSP00000525332.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 800,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855273.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2379C>T",
"hgvs_p": "p.Val793Val",
"transcript": "ENST00000958152.1",
"protein_id": "ENSP00000628211.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 800,
"cds_start": 2379,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958152.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2373C>T",
"hgvs_p": "p.Val791Val",
"transcript": "ENST00000855235.1",
"protein_id": "ENSP00000525294.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 798,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855235.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2373C>T",
"hgvs_p": "p.Val791Val",
"transcript": "ENST00000855255.1",
"protein_id": "ENSP00000525314.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 798,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855255.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2373C>T",
"hgvs_p": "p.Val791Val",
"transcript": "ENST00000855274.1",
"protein_id": "ENSP00000525333.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 798,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855274.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2367C>T",
"hgvs_p": "p.Val789Val",
"transcript": "ENST00000855232.1",
"protein_id": "ENSP00000525291.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 796,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855232.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2367C>T",
"hgvs_p": "p.Val789Val",
"transcript": "ENST00000855240.1",
"protein_id": "ENSP00000525299.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 796,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855240.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2367C>T",
"hgvs_p": "p.Val789Val",
"transcript": "ENST00000855269.1",
"protein_id": "ENSP00000525328.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 796,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855269.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Val787Val",
"transcript": "ENST00000855233.1",
"protein_id": "ENSP00000525292.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 794,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855233.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Val787Val",
"transcript": "ENST00000855241.1",
"protein_id": "ENSP00000525300.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 794,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855241.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Val787Val",
"transcript": "ENST00000855267.1",
"protein_id": "ENSP00000525326.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 794,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855267.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Val787Val",
"transcript": "ENST00000958153.1",
"protein_id": "ENSP00000628212.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 794,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958153.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2358C>T",
"hgvs_p": "p.Val786Val",
"transcript": "ENST00000855261.1",
"protein_id": "ENSP00000525320.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 793,
"cds_start": 2358,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855261.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2352C>T",
"hgvs_p": "p.Val784Val",
"transcript": "ENST00000855250.1",
"protein_id": "ENSP00000525309.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 791,
"cds_start": 2352,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855250.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2349C>T",
"hgvs_p": "p.Val783Val",
"transcript": "ENST00000855222.1",
"protein_id": "ENSP00000525281.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 790,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855222.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2349C>T",
"hgvs_p": "p.Val783Val",
"transcript": "ENST00000855228.1",
"protein_id": "ENSP00000525287.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 790,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855228.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2349C>T",
"hgvs_p": "p.Val783Val",
"transcript": "ENST00000855247.1",
"protein_id": "ENSP00000525306.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 790,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855247.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2346C>T",
"hgvs_p": "p.Val782Val",
"transcript": "ENST00000855280.1",
"protein_id": "ENSP00000525339.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 789,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855280.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2334C>T",
"hgvs_p": "p.Val778Val",
"transcript": "ENST00000855246.1",
"protein_id": "ENSP00000525305.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 785,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855246.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2334C>T",
"hgvs_p": "p.Val778Val",
"transcript": "ENST00000958154.1",
"protein_id": "ENSP00000628213.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 785,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958154.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2322C>T",
"hgvs_p": "p.Val774Val",
"transcript": "ENST00000855223.1",
"protein_id": "ENSP00000525282.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 781,
"cds_start": 2322,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855223.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2322C>T",
"hgvs_p": "p.Val774Val",
"transcript": "ENST00000855224.1",
"protein_id": "ENSP00000525283.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 781,
"cds_start": 2322,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855224.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2322C>T",
"hgvs_p": "p.Val774Val",
"transcript": "ENST00000855225.1",
"protein_id": "ENSP00000525284.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 781,
"cds_start": 2322,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855225.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2322C>T",
"hgvs_p": "p.Val774Val",
"transcript": "ENST00000855254.1",
"protein_id": "ENSP00000525313.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 781,
"cds_start": 2322,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855254.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2322C>T",
"hgvs_p": "p.Val774Val",
"transcript": "ENST00000855283.1",
"protein_id": "ENSP00000525342.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 781,
"cds_start": 2322,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855283.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2319C>T",
"hgvs_p": "p.Val773Val",
"transcript": "ENST00000855248.1",
"protein_id": "ENSP00000525307.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 780,
"cds_start": 2319,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855248.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2313C>T",
"hgvs_p": "p.Val771Val",
"transcript": "ENST00000958155.1",
"protein_id": "ENSP00000628214.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 778,
"cds_start": 2313,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958155.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2307C>T",
"hgvs_p": "p.Val769Val",
"transcript": "ENST00000855253.1",
"protein_id": "ENSP00000525312.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 776,
"cds_start": 2307,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855253.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2307C>T",
"hgvs_p": "p.Val769Val",
"transcript": "ENST00000855282.1",
"protein_id": "ENSP00000525341.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 776,
"cds_start": 2307,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855282.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2301C>T",
"hgvs_p": "p.Val767Val",
"transcript": "ENST00000855281.1",
"protein_id": "ENSP00000525340.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 774,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855281.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2289C>T",
"hgvs_p": "p.Val763Val",
"transcript": "ENST00000855239.1",
"protein_id": "ENSP00000525298.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 770,
"cds_start": 2289,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855239.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2289C>T",
"hgvs_p": "p.Val763Val",
"transcript": "ENST00000855243.1",
"protein_id": "ENSP00000525302.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 770,
"cds_start": 2289,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855243.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2289C>T",
"hgvs_p": "p.Val763Val",
"transcript": "ENST00000855266.1",
"protein_id": "ENSP00000525325.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 770,
"cds_start": 2289,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855266.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2289C>T",
"hgvs_p": "p.Val763Val",
"transcript": "ENST00000855278.1",
"protein_id": "ENSP00000525337.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 770,
"cds_start": 2289,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855278.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2265C>T",
"hgvs_p": "p.Val755Val",
"transcript": "ENST00000855242.1",
"protein_id": "ENSP00000525301.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 762,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855242.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2265C>T",
"hgvs_p": "p.Val755Val",
"transcript": "ENST00000855245.1",
"protein_id": "ENSP00000525304.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 762,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855245.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2262C>T",
"hgvs_p": "p.Val754Val",
"transcript": "ENST00000855227.1",
"protein_id": "ENSP00000525286.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 761,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855227.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2262C>T",
"hgvs_p": "p.Val754Val",
"transcript": "ENST00000855268.1",
"protein_id": "ENSP00000525327.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 761,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855268.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2262C>T",
"hgvs_p": "p.Val754Val",
"transcript": "ENST00000855271.1",
"protein_id": "ENSP00000525330.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 761,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855271.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2241C>T",
"hgvs_p": "p.Val747Val",
"transcript": "ENST00000855249.1",
"protein_id": "ENSP00000525308.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 754,
"cds_start": 2241,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855249.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2241C>T",
"hgvs_p": "p.Val747Val",
"transcript": "ENST00000855260.1",
"protein_id": "ENSP00000525319.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 754,
"cds_start": 2241,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855260.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2229C>T",
"hgvs_p": "p.Val743Val",
"transcript": "ENST00000855258.1",
"protein_id": "ENSP00000525317.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 750,
"cds_start": 2229,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855258.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2229C>T",
"hgvs_p": "p.Val743Val",
"transcript": "ENST00000855284.1",
"protein_id": "ENSP00000525343.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 750,
"cds_start": 2229,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855284.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2229C>T",
"hgvs_p": "p.Val743Val",
"transcript": "ENST00000855286.1",
"protein_id": "ENSP00000525345.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 750,
"cds_start": 2229,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855286.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2205C>T",
"hgvs_p": "p.Val735Val",
"transcript": "ENST00000855264.1",
"protein_id": "ENSP00000525323.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 742,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855264.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2193C>T",
"hgvs_p": "p.Val731Val",
"transcript": "ENST00000855256.1",
"protein_id": "ENSP00000525315.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 738,
"cds_start": 2193,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855256.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2187C>T",
"hgvs_p": "p.Val729Val",
"transcript": "ENST00000855276.1",
"protein_id": "ENSP00000525335.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 736,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855276.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.Val718Val",
"transcript": "ENST00000855231.1",
"protein_id": "ENSP00000525290.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 725,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855231.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2154C>T",
"hgvs_p": "p.Val718Val",
"transcript": "ENST00000855237.1",
"protein_id": "ENSP00000525296.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 725,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855237.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2019C>T",
"hgvs_p": "p.Val673Val",
"transcript": "ENST00000855279.1",
"protein_id": "ENSP00000525338.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 680,
"cds_start": 2019,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855279.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.2013C>T",
"hgvs_p": "p.Val671Val",
"transcript": "ENST00000855285.1",
"protein_id": "ENSP00000525344.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 678,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855285.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1959C>T",
"hgvs_p": "p.Val653Val",
"transcript": "ENST00000855244.1",
"protein_id": "ENSP00000525303.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 660,
"cds_start": 1959,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855244.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1869C>T",
"hgvs_p": "p.Val623Val",
"transcript": "NM_001206855.3",
"protein_id": "NP_001193784.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 630,
"cds_start": 1869,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206855.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.1749C>T",
"hgvs_p": "p.Val583Val",
"transcript": "ENST00000855251.1",
"protein_id": "ENSP00000525310.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 590,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "c.*1057C>T",
"hgvs_p": null,
"transcript": "ENST00000431692.5",
"protein_id": "ENSP00000413905.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": null,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431692.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "n.1418C>T",
"hgvs_p": null,
"transcript": "ENST00000462090.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462090.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "n.2302C>T",
"hgvs_p": null,
"transcript": "ENST00000465294.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465294.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "n.2003C>T",
"hgvs_p": null,
"transcript": "ENST00000476304.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476304.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "n.*1226C>T",
"hgvs_p": null,
"transcript": "ENST00000490084.5",
"protein_id": "ENSP00000418942.1",
"transcript_support_level": 2,
"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": "ENST00000490084.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"hgvs_c": "n.*1226C>T",
"hgvs_p": null,
"transcript": "ENST00000490084.5",
"protein_id": "ENSP00000418942.1",
"transcript_support_level": 2,
"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": "ENST00000490084.5"
}
],
"gene_symbol": "TFR2",
"gene_hgnc_id": 11762,
"dbsnp": "rs754723009",
"frequency_reference_population": 0.0000068154413,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684117,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.534,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003227.4",
"gene_symbol": "TFR2",
"hgnc_id": 11762,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2382C>T",
"hgvs_p": "p.Val794Val"
}
],
"clinvar_disease": "Hereditary hemochromatosis",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hereditary hemochromatosis",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}