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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: 5-179821042-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=179821042&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 179821042,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003900.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "NM_003900.5",
"protein_id": "NP_003891.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 440,
"cds_start": 106,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389805.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003900.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000389805.9",
"protein_id": "ENSP00000374455.4",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 440,
"cds_start": 106,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003900.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389805.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000884700.1",
"protein_id": "ENSP00000554759.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 448,
"cds_start": 106,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884700.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000884698.1",
"protein_id": "ENSP00000554757.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 438,
"cds_start": 106,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884698.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000951526.1",
"protein_id": "ENSP00000621585.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 437,
"cds_start": 106,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951526.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000884702.1",
"protein_id": "ENSP00000554761.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 413,
"cds_start": 106,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884702.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000884703.1",
"protein_id": "ENSP00000554762.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 402,
"cds_start": 106,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884703.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000510187.5",
"protein_id": "ENSP00000424477.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 378,
"cds_start": 106,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510187.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000884704.1",
"protein_id": "ENSP00000554763.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 303,
"cds_start": 106,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884704.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000884699.1",
"protein_id": "ENSP00000554758.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 289,
"cds_start": 106,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884699.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000884701.1",
"protein_id": "ENSP00000554760.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 257,
"cds_start": 106,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884701.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000951527.1",
"protein_id": "ENSP00000621586.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 255,
"cds_start": 106,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951527.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000504627.1",
"protein_id": "ENSP00000425957.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 189,
"cds_start": 106,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504627.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000884705.1",
"protein_id": "ENSP00000554764.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 120,
"cds_start": 106,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884705.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys",
"transcript": "ENST00000626660.1",
"protein_id": "ENSP00000487071.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 73,
"cds_start": 106,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626660.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.-47-1916G>A",
"hgvs_p": null,
"transcript": "NM_001142298.2",
"protein_id": "NP_001135770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142298.2"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.-47-1916G>A",
"hgvs_p": null,
"transcript": "NM_001142299.2",
"protein_id": "NP_001135771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142299.2"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.-47-1916G>A",
"hgvs_p": null,
"transcript": "ENST00000514093.5",
"protein_id": "ENSP00000427308.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": null,
"cds_end": null,
"cds_length": 502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514093.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.-47-1916G>A",
"hgvs_p": null,
"transcript": "ENST00000422245.5",
"protein_id": "ENSP00000394534.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422245.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "n.106G>A",
"hgvs_p": null,
"transcript": "ENST00000453046.5",
"protein_id": "ENSP00000405061.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000453046.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "n.106G>A",
"hgvs_p": null,
"transcript": "ENST00000508284.5",
"protein_id": "ENSP00000424195.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000508284.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301422",
"gene_hgnc_id": null,
"hgvs_c": "n.97C>T",
"hgvs_p": null,
"transcript": "ENST00000778815.1",
"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": "ENST00000778815.1"
},
{
"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": 4,
"intron_rank": 1,
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"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "n.100+336G>A",
"hgvs_p": null,
"transcript": "ENST00000464493.5",
"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": "pseudogene",
"feature": "ENST00000464493.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "n.355+655G>A",
"hgvs_p": null,
"transcript": "ENST00000481335.5",
"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": "pseudogene",
"feature": "ENST00000481335.5"
}
],
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"dbsnp": "rs376158712",
"frequency_reference_population": 0.000026480588,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000265043,
"gnomad_genomes_af": 0.0000262633,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0944271981716156,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.137,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.245,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_003900.5",
"gene_symbol": "SQSTM1",
"hgnc_id": 11280,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Glu36Lys"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000778815.1",
"gene_symbol": "ENSG00000301422",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.97C>T",
"hgvs_p": null
}
],
"clinvar_disease": " early-onset,Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,Paget disease of bone 2",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1;Paget disease of bone 2, early-onset",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}