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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: 19-49196790-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49196790&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49196790,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017636.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Gln854Arg",
"transcript": "NM_017636.4",
"protein_id": "NP_060106.2",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252826.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017636.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Gln854Arg",
"transcript": "ENST00000252826.10",
"protein_id": "ENSP00000252826.4",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017636.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252826.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2211-3510A>G",
"hgvs_p": null,
"transcript": "ENST00000427978.6",
"protein_id": "ENSP00000407492.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": null,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427978.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*1971A>G",
"hgvs_p": null,
"transcript": "ENST00000595519.5",
"protein_id": "ENSP00000469893.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000595519.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*1674A>G",
"hgvs_p": null,
"transcript": "ENST00000598502.5",
"protein_id": "ENSP00000470229.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000598502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*1971A>G",
"hgvs_p": null,
"transcript": "ENST00000595519.5",
"protein_id": "ENSP00000469893.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000595519.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*1674A>G",
"hgvs_p": null,
"transcript": "ENST00000598502.5",
"protein_id": "ENSP00000470229.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000598502.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Gln854Arg",
"transcript": "ENST00000864591.1",
"protein_id": "ENSP00000534650.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864591.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Gln854Arg",
"transcript": "ENST00000864593.1",
"protein_id": "ENSP00000534652.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864593.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Gln854Arg",
"transcript": "ENST00000963018.1",
"protein_id": "ENSP00000633077.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1202,
"cds_start": 2561,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963018.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2483A>G",
"hgvs_p": "p.Gln828Arg",
"transcript": "ENST00000864590.1",
"protein_id": "ENSP00000534649.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2483,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864590.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Gln739Arg",
"transcript": "NM_001321281.2",
"protein_id": "NP_001308210.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2216,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321281.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Gln680Arg",
"transcript": "NM_001321283.2",
"protein_id": "NP_001308212.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2039,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321283.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.1868A>G",
"hgvs_p": "p.Gln623Arg",
"transcript": "ENST00000864589.1",
"protein_id": "ENSP00000534648.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 983,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864589.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.1499A>G",
"hgvs_p": "p.Gln500Arg",
"transcript": "NM_001321285.2",
"protein_id": "NP_001308214.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 860,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321285.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Gln318Arg",
"transcript": "NM_001321282.2",
"protein_id": "NP_001308211.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 678,
"cds_start": 953,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321282.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.3032A>G",
"hgvs_p": "p.Gln1011Arg",
"transcript": "XM_047438992.1",
"protein_id": "XP_047294948.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3032,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438992.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.1274A>G",
"hgvs_p": "p.Gln425Arg",
"transcript": "XM_047438993.1",
"protein_id": "XP_047294949.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 785,
"cds_start": 1274,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438993.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2526A>G",
"hgvs_p": "p.Pro842Pro",
"transcript": "ENST00000864592.1",
"protein_id": "ENSP00000534651.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864592.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "c.2211-3510A>G",
"hgvs_p": null,
"transcript": "NM_001195227.2",
"protein_id": "NP_001182156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": null,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195227.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.1525A>G",
"hgvs_p": null,
"transcript": "ENST00000595071.5",
"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": "ENST00000595071.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.2658A>G",
"hgvs_p": null,
"transcript": "ENST00000596338.5",
"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": "ENST00000596338.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*1516A>G",
"hgvs_p": null,
"transcript": "ENST00000598697.5",
"protein_id": "ENSP00000468989.1",
"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": "ENST00000598697.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*1516A>G",
"hgvs_p": null,
"transcript": "ENST00000598697.5",
"protein_id": "ENSP00000468989.1",
"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": "ENST00000598697.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"hgvs_c": "n.*74A>G",
"hgvs_p": null,
"transcript": "ENST00000595882.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000595882.1"
}
],
"gene_symbol": "TRPM4",
"gene_hgnc_id": 17993,
"dbsnp": "rs172155862",
"frequency_reference_population": 0.001020421,
"hom_count_reference_population": 5,
"allele_count_reference_population": 1610,
"gnomad_exomes_af": 0.00104735,
"gnomad_genomes_af": 0.000768362,
"gnomad_exomes_ac": 1493,
"gnomad_genomes_ac": 117,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010563403367996216,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0629,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.148,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017636.4",
"gene_symbol": "TRPM4",
"hgnc_id": 17993,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Gln854Arg"
}
],
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,Progressive familial heart block type IB,TRPM4-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:5",
"phenotype_combined": "Progressive familial heart block type IB|not provided|Cardiovascular phenotype|Long QT syndrome|not specified|TRPM4-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}