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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: 13-37637356-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=37637356&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 37637356,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003306.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2481G>C",
"hgvs_p": "p.Glu827Asp",
"transcript": "NM_016179.4",
"protein_id": "NP_057263.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 977,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379705.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016179.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2481G>C",
"hgvs_p": "p.Glu827Asp",
"transcript": "ENST00000379705.8",
"protein_id": "ENSP00000369027.4",
"transcript_support_level": 1,
"aa_start": 827,
"aa_end": null,
"aa_length": 977,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016179.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379705.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2496G>C",
"hgvs_p": "p.Glu832Asp",
"transcript": "ENST00000625583.2",
"protein_id": "ENSP00000486109.1",
"transcript_support_level": 1,
"aa_start": 832,
"aa_end": null,
"aa_length": 982,
"cds_start": 2496,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625583.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.1962G>C",
"hgvs_p": "p.Glu654Asp",
"transcript": "ENST00000379679.5",
"protein_id": "ENSP00000369001.1",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 804,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379679.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2354-125G>C",
"hgvs_p": null,
"transcript": "ENST00000358477.6",
"protein_id": "ENSP00000351264.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": null,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358477.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2189-131G>C",
"hgvs_p": null,
"transcript": "ENST00000355779.6",
"protein_id": "ENSP00000348025.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": null,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355779.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2159-125G>C",
"hgvs_p": null,
"transcript": "ENST00000379673.2",
"protein_id": "ENSP00000368995.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379673.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2496G>C",
"hgvs_p": "p.Glu832Asp",
"transcript": "NM_003306.3",
"protein_id": "NP_003297.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 982,
"cds_start": 2496,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003306.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2481G>C",
"hgvs_p": "p.Glu827Asp",
"transcript": "ENST00000957123.1",
"protein_id": "ENSP00000627182.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 977,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957123.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2481G>C",
"hgvs_p": "p.Glu827Asp",
"transcript": "ENST00000957124.1",
"protein_id": "ENSP00000627183.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 977,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957124.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.1962G>C",
"hgvs_p": "p.Glu654Asp",
"transcript": "NM_001135958.3",
"protein_id": "NP_001129430.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 804,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135958.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.1962G>C",
"hgvs_p": "p.Glu654Asp",
"transcript": "ENST00000338947.9",
"protein_id": "ENSP00000342580.5",
"transcript_support_level": 5,
"aa_start": 654,
"aa_end": null,
"aa_length": 804,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338947.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.1221G>C",
"hgvs_p": "p.Glu407Asp",
"transcript": "NM_001354799.2",
"protein_id": "NP_001341728.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 557,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354799.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.1221G>C",
"hgvs_p": "p.Glu407Asp",
"transcript": "NM_001354806.2",
"protein_id": "NP_001341735.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 557,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354806.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.1221G>C",
"hgvs_p": "p.Glu407Asp",
"transcript": "NM_001372055.1",
"protein_id": "NP_001358984.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 557,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372055.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.1236G>C",
"hgvs_p": "p.Glu412Asp",
"transcript": "XM_011535206.2",
"protein_id": "XP_011533508.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 562,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535206.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.1236G>C",
"hgvs_p": "p.Glu412Asp",
"transcript": "XM_017020723.2",
"protein_id": "XP_016876212.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 562,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020723.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2354-125G>C",
"hgvs_p": null,
"transcript": "NM_001135955.3",
"protein_id": "NP_001129427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": null,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135955.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2189-131G>C",
"hgvs_p": null,
"transcript": "NM_001135957.3",
"protein_id": "NP_001129429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 836,
"cds_start": null,
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"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135957.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.2159-125G>C",
"hgvs_p": null,
"transcript": "NM_001135956.3",
"protein_id": "NP_001129428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135956.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "c.*784+128G>C",
"hgvs_p": null,
"transcript": "ENST00000426868.6",
"protein_id": "ENSP00000410133.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426868.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "n.*1172G>C",
"hgvs_p": null,
"transcript": "ENST00000488717.5",
"protein_id": "ENSP00000435969.1",
"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": "ENST00000488717.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"hgvs_c": "n.*1172G>C",
"hgvs_p": null,
"transcript": "ENST00000488717.5",
"protein_id": "ENSP00000435969.1",
"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": "ENST00000488717.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297050",
"gene_hgnc_id": null,
"hgvs_c": "n.252-1538C>G",
"hgvs_p": null,
"transcript": "ENST00000744989.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000744989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297050",
"gene_hgnc_id": null,
"hgvs_c": "n.622-1538C>G",
"hgvs_p": null,
"transcript": "ENST00000744990.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000744990.1"
}
],
"gene_symbol": "TRPC4",
"gene_hgnc_id": 12336,
"dbsnp": "rs548518449",
"frequency_reference_population": 0.0000065737577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657376,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10115867853164673,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0693,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.978,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003306.3",
"gene_symbol": "TRPC4",
"hgnc_id": 12336,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2496G>C",
"hgvs_p": "p.Glu832Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000744989.1",
"gene_symbol": "ENSG00000297050",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.252-1538C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}