← 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: 21-42376613-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42376613&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 42376613,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_024022.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1119C>T",
"hgvs_p": "p.Asp373Asp",
"transcript": "NM_001256317.3",
"protein_id": "NP_001243246.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 453,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644384.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256317.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1119C>T",
"hgvs_p": "p.Asp373Asp",
"transcript": "ENST00000644384.2",
"protein_id": "ENSP00000494414.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 453,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256317.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644384.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asp374Asp",
"transcript": "ENST00000433957.7",
"protein_id": "ENSP00000411013.3",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 454,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433957.7"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "n.990C>T",
"hgvs_p": null,
"transcript": "ENST00000474596.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474596.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "n.1409C>T",
"hgvs_p": null,
"transcript": "ENST00000482761.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482761.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1125C>T",
"hgvs_p": "p.Asp375Asp",
"transcript": "ENST00000896622.1",
"protein_id": "ENSP00000566681.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 455,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896622.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1125C>T",
"hgvs_p": "p.Asp375Asp",
"transcript": "ENST00000896631.1",
"protein_id": "ENSP00000566690.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 455,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896631.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asp374Asp",
"transcript": "NM_024022.4",
"protein_id": "NP_076927.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 454,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024022.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asp374Asp",
"transcript": "ENST00000896621.1",
"protein_id": "ENSP00000566680.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 454,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896621.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asp374Asp",
"transcript": "ENST00000896625.1",
"protein_id": "ENSP00000566684.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 454,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896625.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asp374Asp",
"transcript": "ENST00000896629.1",
"protein_id": "ENSP00000566688.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 454,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896629.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asp374Asp",
"transcript": "ENST00000896630.1",
"protein_id": "ENSP00000566689.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 454,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896630.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asp374Asp",
"transcript": "ENST00000957272.1",
"protein_id": "ENSP00000627331.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 454,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957272.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1119C>T",
"hgvs_p": "p.Asp373Asp",
"transcript": "ENST00000652415.1",
"protein_id": "ENSP00000498756.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 453,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652415.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1119C>T",
"hgvs_p": "p.Asp373Asp",
"transcript": "ENST00000896627.1",
"protein_id": "ENSP00000566686.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 453,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896627.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1119C>T",
"hgvs_p": "p.Asp373Asp",
"transcript": "ENST00000896628.1",
"protein_id": "ENSP00000566687.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 453,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896628.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1113C>T",
"hgvs_p": "p.Asp371Asp",
"transcript": "ENST00000398405.5",
"protein_id": "ENSP00000381442.1",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 451,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398405.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.1011C>T",
"hgvs_p": "p.Asp337Asp",
"transcript": "ENST00000957273.1",
"protein_id": "ENSP00000627332.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 417,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957273.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.924C>T",
"hgvs_p": "p.Asp308Asp",
"transcript": "ENST00000896623.1",
"protein_id": "ENSP00000566682.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 388,
"cds_start": 924,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896623.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.921C>T",
"hgvs_p": "p.Asp307Asp",
"transcript": "ENST00000896624.1",
"protein_id": "ENSP00000566683.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 387,
"cds_start": 921,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896624.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.921C>T",
"hgvs_p": "p.Asp307Asp",
"transcript": "ENST00000896626.1",
"protein_id": "ENSP00000566685.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 387,
"cds_start": 921,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896626.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "c.741C>T",
"hgvs_p": "p.Asp247Asp",
"transcript": "NM_032404.3",
"protein_id": "NP_115780.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 327,
"cds_start": 741,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032404.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"hgvs_c": "n.1854C>T",
"hgvs_p": null,
"transcript": "ENST00000476848.5",
"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": "ENST00000476848.5"
}
],
"gene_symbol": "TMPRSS3",
"gene_hgnc_id": 11877,
"dbsnp": "rs113747896",
"frequency_reference_population": 0.0006976231,
"hom_count_reference_population": 4,
"allele_count_reference_population": 1126,
"gnomad_exomes_af": 0.000482291,
"gnomad_genomes_af": 0.00276468,
"gnomad_exomes_ac": 705,
"gnomad_genomes_ac": 421,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"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": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.29,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2_Supporting",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "NM_024022.4",
"gene_symbol": "TMPRSS3",
"hgnc_id": 11877,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1122C>T",
"hgvs_p": "p.Asp374Asp"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 8,TMPRSS3-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:3",
"phenotype_combined": "not specified|Autosomal recessive nonsyndromic hearing loss 8|not provided|TMPRSS3-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}