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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 14-81087993-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=81087993&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 81087993,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000298171.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro",
"transcript": "NM_000369.5",
"protein_id": "NP_000360.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 764,
"cds_start": 357,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": "ENST00000298171.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro",
"transcript": "ENST00000298171.7",
"protein_id": "ENSP00000298171.2",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 764,
"cds_start": 357,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": "NM_000369.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro",
"transcript": "ENST00000554435.1",
"protein_id": "ENSP00000450549.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 274,
"cds_start": 357,
"cds_end": null,
"cds_length": 825,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro",
"transcript": "ENST00000342443.10",
"protein_id": "ENSP00000340113.6",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 253,
"cds_start": 357,
"cds_end": null,
"cds_length": 762,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro",
"transcript": "ENST00000554263.5",
"protein_id": "ENSP00000451202.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 231,
"cds_start": 357,
"cds_end": null,
"cds_length": 696,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro",
"transcript": "ENST00000541158.6",
"protein_id": "ENSP00000441235.2",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 764,
"cds_start": 357,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro",
"transcript": "NM_001142626.3",
"protein_id": "NP_001136098.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 274,
"cds_start": 357,
"cds_end": null,
"cds_length": 825,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro",
"transcript": "NM_001018036.3",
"protein_id": "NP_001018046.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 253,
"cds_start": 357,
"cds_end": null,
"cds_length": 762,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "c.78T>A",
"hgvs_p": "p.Pro26Pro",
"transcript": "XM_011537119.3",
"protein_id": "XP_011535421.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 671,
"cds_start": 78,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "n.*67T>A",
"hgvs_p": null,
"transcript": "ENST00000555326.5",
"protein_id": "ENSP00000451092.1",
"transcript_support_level": 4,
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "n.275T>A",
"hgvs_p": null,
"transcript": "ENST00000636454.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1606,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.13599A>T",
"hgvs_p": null,
"transcript": "XR_007064286.1",
"protein_id": null,
"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": 18508,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.12772A>T",
"hgvs_p": null,
"transcript": "XR_007064287.1",
"protein_id": null,
"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,
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"cdna_length": 17681,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.12730A>T",
"hgvs_p": null,
"transcript": "XR_007064288.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.13968A>T",
"hgvs_p": null,
"transcript": "XR_007064289.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 18877,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.13677A>T",
"hgvs_p": null,
"transcript": "XR_007064291.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"hgvs_c": "n.*67T>A",
"hgvs_p": null,
"transcript": "ENST00000555326.5",
"protein_id": "ENSP00000451092.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.905-341A>T",
"hgvs_p": null,
"transcript": "ENST00000646052.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3530,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.1001-341A>T",
"hgvs_p": null,
"transcript": "ENST00000646928.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.905-341A>T",
"hgvs_p": null,
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"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.720+5589A>T",
"hgvs_p": null,
"transcript": "ENST00000654681.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.598-341A>T",
"hgvs_p": null,
"transcript": "ENST00000788233.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.787-341A>T",
"hgvs_p": null,
"transcript": "ENST00000788234.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284959",
"gene_hgnc_id": 58172,
"hgvs_c": "n.577+4321A>T",
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"transcript": "ENST00000788235.1",
"protein_id": null,
"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,
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"cdna_length": 981,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TSHR-AS1",
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"hgvs_c": "n.8630-341A>T",
"hgvs_p": null,
"transcript": "XR_001751018.3",
"protein_id": null,
"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": 18056,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.882-341A>T",
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"transcript": "XR_001751022.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 9299,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TSHR-AS1",
"gene_hgnc_id": 58172,
"hgvs_c": "n.882-341A>T",
"hgvs_p": null,
"transcript": "XR_007064290.1",
"protein_id": null,
"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": 10308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSHR",
"gene_hgnc_id": 12373,
"dbsnp": "rs144084915",
"frequency_reference_population": 0.002544717,
"hom_count_reference_population": 11,
"allele_count_reference_population": 4107,
"gnomad_exomes_af": 0.00263405,
"gnomad_genomes_af": 0.00168741,
"gnomad_exomes_ac": 3850,
"gnomad_genomes_ac": 257,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.376,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000298171.7",
"gene_symbol": "TSHR",
"hgnc_id": 12373,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.357T>A",
"hgvs_p": "p.Pro119Pro"
},
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007064286.1",
"gene_symbol": "TSHR-AS1",
"hgnc_id": 58172,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.13599A>T",
"hgvs_p": null
},
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000646052.2",
"gene_symbol": "ENSG00000284959",
"hgnc_id": 58172,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.905-341A>T",
"hgvs_p": null
}
],
"clinvar_disease": "Familial hyperthyroidism due to mutations in TSH receptor,Hypothyroidism due to TSH receptor mutations,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:3",
"phenotype_combined": "Hypothyroidism due to TSH receptor mutations|not specified|not provided|Familial hyperthyroidism due to mutations in TSH receptor",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}