← 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: 3-24122894-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=24122894&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 24122894,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000646209.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001354712.2",
"protein_id": "NP_001341641.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 7576,
"mane_select": "ENST00000646209.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000646209.2",
"protein_id": "ENSP00000496686.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 7576,
"mane_select": "NM_001354712.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000356447.9",
"protein_id": "ENSP00000348827.4",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1421T>G",
"hgvs_p": "p.Phe474Cys",
"transcript": "ENST00000280696.9",
"protein_id": "ENSP00000280696.5",
"transcript_support_level": 5,
"aa_start": 474,
"aa_end": null,
"aa_length": 476,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_000461.5",
"protein_id": "NP_000452.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 7430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001128176.3",
"protein_id": "NP_001121648.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001128177.2",
"protein_id": "NP_001121649.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001252634.2",
"protein_id": "NP_001239563.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 7665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001354708.2",
"protein_id": "NP_001341637.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 7807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001354709.2",
"protein_id": "NP_001341638.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001354710.2",
"protein_id": "NP_001341639.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001354711.2",
"protein_id": "NP_001341640.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 7287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001354713.2",
"protein_id": "NP_001341642.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001374822.1",
"protein_id": "NP_001361751.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 7366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001374823.1",
"protein_id": "NP_001361752.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 7498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001374824.1",
"protein_id": "NP_001361753.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 7671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001374825.1",
"protein_id": "NP_001361754.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 7378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "NM_001374826.1",
"protein_id": "NP_001361755.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 7532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000396671.7",
"protein_id": "ENSP00000379904.2",
"transcript_support_level": 5,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 7402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000416420.5",
"protein_id": "ENSP00000414444.1",
"transcript_support_level": 2,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000642307.1",
"protein_id": "ENSP00000494618.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000643772.1",
"protein_id": "ENSP00000496029.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000644321.1",
"protein_id": "ENSP00000496616.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 5489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000645139.1",
"protein_id": "ENSP00000493709.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "ENST00000646432.1",
"protein_id": "ENSP00000496509.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1283T>G",
"hgvs_p": "p.Phe428Cys",
"transcript": "NM_001354714.2",
"protein_id": "NP_001341643.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 430,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 7223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1283T>G",
"hgvs_p": "p.Phe428Cys",
"transcript": "NM_001354715.2",
"protein_id": "NP_001341644.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 430,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 7331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1205T>G",
"hgvs_p": "p.Phe402Cys",
"transcript": "NM_001374827.1",
"protein_id": "NP_001361756.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 404,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 7116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_011534047.4",
"protein_id": "XP_011532349.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 7713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_011534050.3",
"protein_id": "XP_011532352.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 7521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_024453734.2",
"protein_id": "XP_024309502.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 7570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_024453737.2",
"protein_id": "XP_024309505.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 38035,
"cdna_end": null,
"cdna_length": 43776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448789.1",
"protein_id": "XP_047304745.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 7678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448790.1",
"protein_id": "XP_047304746.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 7765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448791.1",
"protein_id": "XP_047304747.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 7640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448792.1",
"protein_id": "XP_047304748.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 7611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448793.1",
"protein_id": "XP_047304749.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 7735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448794.1",
"protein_id": "XP_047304750.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 7953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448795.1",
"protein_id": "XP_047304751.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448796.1",
"protein_id": "XP_047304752.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 7522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448797.1",
"protein_id": "XP_047304753.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 7550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448798.1",
"protein_id": "XP_047304754.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 7630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448799.1",
"protein_id": "XP_047304755.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448800.1",
"protein_id": "XP_047304756.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 7658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448801.1",
"protein_id": "XP_047304757.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448802.1",
"protein_id": "XP_047304758.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448803.1",
"protein_id": "XP_047304759.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448804.1",
"protein_id": "XP_047304760.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 7500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448805.1",
"protein_id": "XP_047304761.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 7452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448806.1",
"protein_id": "XP_047304762.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 7465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448807.1",
"protein_id": "XP_047304763.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448808.1",
"protein_id": "XP_047304764.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 7791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448809.1",
"protein_id": "XP_047304765.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 7602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448810.1",
"protein_id": "XP_047304766.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448811.1",
"protein_id": "XP_047304767.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 7357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448812.1",
"protein_id": "XP_047304768.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 7589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448813.1",
"protein_id": "XP_047304769.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 7486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448814.1",
"protein_id": "XP_047304770.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 7747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448815.1",
"protein_id": "XP_047304771.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448816.1",
"protein_id": "XP_047304772.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 7744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys",
"transcript": "XM_047448817.1",
"protein_id": "XP_047304773.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 461,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1283T>G",
"hgvs_p": "p.Phe428Cys",
"transcript": "XM_017007113.2",
"protein_id": "XP_016862602.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 430,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 7366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1283T>G",
"hgvs_p": "p.Phe428Cys",
"transcript": "XM_047448818.1",
"protein_id": "XP_047304774.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 430,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 7649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "n.*2005T>G",
"hgvs_p": null,
"transcript": "ENST00000646966.1",
"protein_id": "ENSP00000496095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "n.*2005T>G",
"hgvs_p": null,
"transcript": "ENST00000646966.1",
"protein_id": "ENSP00000496095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"dbsnp": "rs121918702",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9558292031288147,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.96,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.257,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.11,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646209.2",
"gene_symbol": "THRB",
"hgnc_id": 11799,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1376T>G",
"hgvs_p": "p.Phe459Cys"
}
],
"clinvar_disease": "Generalized resistance to thyroid hormone",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Generalized resistance to thyroid hormone",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}