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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: 15-70051426-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70051426&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70051426,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438147.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Ala723Thr",
"transcript": "NM_001105192.3",
"protein_id": "NP_001098662.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 769,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451782.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105192.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Ala723Thr",
"transcript": "ENST00000451782.7",
"protein_id": "ENSP00000394717.3",
"transcript_support_level": 5,
"aa_start": 723,
"aa_end": null,
"aa_length": 769,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105192.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451782.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2176G>A",
"hgvs_p": "p.Ala726Thr",
"transcript": "ENST00000558939.5",
"protein_id": "ENSP00000452871.1",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 772,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558939.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Ala721Thr",
"transcript": "ENST00000558379.5",
"protein_id": "ENSP00000453435.1",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 767,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558379.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Ala718Thr",
"transcript": "ENST00000557907.5",
"protein_id": "ENSP00000453107.1",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 764,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557907.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Ala718Thr",
"transcript": "ENST00000557997.5",
"protein_id": "ENSP00000453083.1",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 764,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557997.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Ala714Thr",
"transcript": "ENST00000317509.12",
"protein_id": "ENSP00000319233.8",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 760,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317509.12"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Ala736Thr",
"transcript": "ENST00000559929.5",
"protein_id": "ENSP00000453081.1",
"transcript_support_level": 5,
"aa_start": 736,
"aa_end": null,
"aa_length": 782,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559929.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Ala733Thr",
"transcript": "NM_001438147.1",
"protein_id": "NP_001425076.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 779,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438147.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Ala733Thr",
"transcript": "ENST00000952208.1",
"protein_id": "ENSP00000622267.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 779,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952208.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Ala732Thr",
"transcript": "ENST00000558201.5",
"protein_id": "ENSP00000452881.1",
"transcript_support_level": 5,
"aa_start": 732,
"aa_end": null,
"aa_length": 778,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558201.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2182G>A",
"hgvs_p": "p.Ala728Thr",
"transcript": "NM_001438148.1",
"protein_id": "NP_001425077.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 774,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438148.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2182G>A",
"hgvs_p": "p.Ala728Thr",
"transcript": "ENST00000560939.5",
"protein_id": "ENSP00000452933.1",
"transcript_support_level": 5,
"aa_start": 728,
"aa_end": null,
"aa_length": 774,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560939.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2176G>A",
"hgvs_p": "p.Ala726Thr",
"transcript": "NM_005078.4",
"protein_id": "NP_005069.2",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 772,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005078.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2176G>A",
"hgvs_p": "p.Ala726Thr",
"transcript": "ENST00000559048.5",
"protein_id": "ENSP00000453760.1",
"transcript_support_level": 2,
"aa_start": 726,
"aa_end": null,
"aa_length": 772,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559048.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2164G>A",
"hgvs_p": "p.Ala722Thr",
"transcript": "ENST00000952209.1",
"protein_id": "ENSP00000622268.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 768,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952209.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Ala721Thr",
"transcript": "NM_001282980.2",
"protein_id": "NP_001269909.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 767,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282980.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Ala720Thr",
"transcript": "NM_001438836.1",
"protein_id": "NP_001425765.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 766,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438836.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2152G>A",
"hgvs_p": "p.Ala718Thr",
"transcript": "NM_001282979.2",
"protein_id": "NP_001269908.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 764,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282979.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2149G>A",
"hgvs_p": "p.Ala717Thr",
"transcript": "NM_001438837.1",
"protein_id": "NP_001425766.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 763,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438837.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2146G>A",
"hgvs_p": "p.Ala716Thr",
"transcript": "NM_001282981.2",
"protein_id": "NP_001269910.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 762,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282981.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2146G>A",
"hgvs_p": "p.Ala716Thr",
"transcript": "ENST00000440567.7",
"protein_id": "ENSP00000415057.3",
"transcript_support_level": 2,
"aa_start": 716,
"aa_end": null,
"aa_length": 762,
"cds_start": 2146,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000654081.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "n.*812G>A",
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"transcript": "ENST00000557919.5",
"protein_id": "ENSP00000452803.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557919.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "n.*548G>A",
"hgvs_p": null,
"transcript": "ENST00000560525.6",
"protein_id": "ENSP00000453219.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560525.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "n.*812G>A",
"hgvs_p": null,
"transcript": "ENST00000561453.5",
"protein_id": "ENSP00000453373.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561453.5"
}
],
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"dbsnp": "rs202211427",
"frequency_reference_population": 0.00012667739,
"hom_count_reference_population": 1,
"allele_count_reference_population": 204,
"gnomad_exomes_af": 0.00013441,
"gnomad_genomes_af": 0.0000525762,
"gnomad_exomes_ac": 196,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7518821954727173,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.459,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8768,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.813,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001438147.1",
"gene_symbol": "TLE3",
"hgnc_id": 11839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Ala733Thr"
}
],
"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
}