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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: 9-79708207-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=79708207&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 79708207,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001282748.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1026A>T",
"hgvs_p": "p.Gly342Gly",
"transcript": "NM_007005.6",
"protein_id": "NP_008936.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 773,
"cds_start": 1026,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": "ENST00000376552.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007005.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1026A>T",
"hgvs_p": "p.Gly342Gly",
"transcript": "ENST00000376552.8",
"protein_id": "ENSP00000365735.2",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 773,
"cds_start": 1026,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": "NM_007005.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376552.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1122A>T",
"hgvs_p": "p.Gly374Gly",
"transcript": "ENST00000376537.8",
"protein_id": "ENSP00000365720.4",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 805,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376537.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.819A>T",
"hgvs_p": "p.Gly273Gly",
"transcript": "ENST00000376544.7",
"protein_id": "ENSP00000365727.4",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 704,
"cds_start": 819,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 4871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376544.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "n.*848A>T",
"hgvs_p": null,
"transcript": "ENST00000470872.5",
"protein_id": "ENSP00000417245.1",
"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": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470872.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "n.*848A>T",
"hgvs_p": null,
"transcript": "ENST00000470872.5",
"protein_id": "ENSP00000417245.1",
"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": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470872.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1122A>T",
"hgvs_p": "p.Gly374Gly",
"transcript": "NM_001282748.2",
"protein_id": "NP_001269677.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 805,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282748.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Gly355Gly",
"transcript": "NM_001351541.2",
"protein_id": "NP_001338470.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 786,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351541.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Gly355Gly",
"transcript": "ENST00000965889.1",
"protein_id": "ENSP00000635948.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 786,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965889.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1029A>T",
"hgvs_p": "p.Gly343Gly",
"transcript": "NM_001351542.2",
"protein_id": "NP_001338471.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 774,
"cds_start": 1029,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 4889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351542.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1023A>T",
"hgvs_p": "p.Gly341Gly",
"transcript": "NM_001351543.2",
"protein_id": "NP_001338472.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 772,
"cds_start": 1023,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351543.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1023A>T",
"hgvs_p": "p.Gly341Gly",
"transcript": "ENST00000706431.1",
"protein_id": "ENSP00000516378.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 772,
"cds_start": 1023,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706431.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1020A>T",
"hgvs_p": "p.Gly340Gly",
"transcript": "NM_001351546.2",
"protein_id": "NP_001338475.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 771,
"cds_start": 1020,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351546.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.975A>T",
"hgvs_p": "p.Gly325Gly",
"transcript": "NM_001351547.2",
"protein_id": "NP_001338476.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 756,
"cds_start": 975,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351547.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.972A>T",
"hgvs_p": "p.Gly324Gly",
"transcript": "ENST00000965887.1",
"protein_id": "ENSP00000635946.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 755,
"cds_start": 972,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965887.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.966A>T",
"hgvs_p": "p.Gly322Gly",
"transcript": "NM_001351550.2",
"protein_id": "NP_001338479.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 753,
"cds_start": 966,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351550.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.963A>T",
"hgvs_p": "p.Gly321Gly",
"transcript": "NM_001351552.2",
"protein_id": "NP_001338481.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 752,
"cds_start": 963,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 4823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351552.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.963A>T",
"hgvs_p": "p.Gly321Gly",
"transcript": "ENST00000965888.1",
"protein_id": "ENSP00000635947.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 752,
"cds_start": 963,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965888.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.957A>T",
"hgvs_p": "p.Gly319Gly",
"transcript": "NM_001351556.2",
"protein_id": "NP_001338485.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 750,
"cds_start": 957,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351556.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.954A>T",
"hgvs_p": "p.Gly318Gly",
"transcript": "NM_001351558.2",
"protein_id": "NP_001338487.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 749,
"cds_start": 954,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351558.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.951A>T",
"hgvs_p": "p.Gly317Gly",
"transcript": "NM_001282749.2",
"protein_id": "NP_001269678.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 748,
"cds_start": 951,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 4811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282749.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.951A>T",
"hgvs_p": "p.Gly317Gly",
"transcript": "ENST00000265284.10",
"protein_id": "ENSP00000265284.6",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 748,
"cds_start": 951,
"cds_end": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104239.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "n.*376A>T",
"hgvs_p": null,
"transcript": "ENST00000462803.5",
"protein_id": "ENSP00000417715.1",
"transcript_support_level": 5,
"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": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462803.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "n.*45A>T",
"hgvs_p": null,
"transcript": "ENST00000463431.5",
"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": 526,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463431.5"
}
],
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"dbsnp": "rs181919110",
"frequency_reference_population": 0.0013926749,
"hom_count_reference_population": 2,
"allele_count_reference_population": 2248,
"gnomad_exomes_af": 0.00143309,
"gnomad_genomes_af": 0.00100471,
"gnomad_exomes_ac": 2095,
"gnomad_genomes_ac": 153,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019999999552965164,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.015,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001282748.2",
"gene_symbol": "TLE4",
"hgnc_id": 11840,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1122A>T",
"hgvs_p": "p.Gly374Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}