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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: 15-70054603-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70054603&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70054603,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438147.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1661C>G",
"hgvs_p": "p.Thr554Ser",
"transcript": "NM_001105192.3",
"protein_id": "NP_001098662.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 769,
"cds_start": 1661,
"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": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1661C>G",
"hgvs_p": "p.Thr554Ser",
"transcript": "ENST00000451782.7",
"protein_id": "ENSP00000394717.3",
"transcript_support_level": 5,
"aa_start": 554,
"aa_end": null,
"aa_length": 769,
"cds_start": 1661,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1670C>G",
"hgvs_p": "p.Thr557Ser",
"transcript": "ENST00000558939.5",
"protein_id": "ENSP00000452871.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 772,
"cds_start": 1670,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1655C>G",
"hgvs_p": "p.Thr552Ser",
"transcript": "ENST00000558379.5",
"protein_id": "ENSP00000453435.1",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 767,
"cds_start": 1655,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1646C>G",
"hgvs_p": "p.Thr549Ser",
"transcript": "ENST00000557907.5",
"protein_id": "ENSP00000453107.1",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 764,
"cds_start": 1646,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1646C>G",
"hgvs_p": "p.Thr549Ser",
"transcript": "ENST00000557997.5",
"protein_id": "ENSP00000453083.1",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 764,
"cds_start": 1646,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1634C>G",
"hgvs_p": "p.Thr545Ser",
"transcript": "ENST00000317509.12",
"protein_id": "ENSP00000319233.8",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 760,
"cds_start": 1634,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1700C>G",
"hgvs_p": "p.Thr567Ser",
"transcript": "ENST00000559929.5",
"protein_id": "ENSP00000453081.1",
"transcript_support_level": 5,
"aa_start": 567,
"aa_end": null,
"aa_length": 782,
"cds_start": 1700,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1691C>G",
"hgvs_p": "p.Thr564Ser",
"transcript": "NM_001438147.1",
"protein_id": "NP_001425076.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 779,
"cds_start": 1691,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1691C>G",
"hgvs_p": "p.Thr564Ser",
"transcript": "ENST00000952208.1",
"protein_id": "ENSP00000622267.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 779,
"cds_start": 1691,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Thr563Ser",
"transcript": "ENST00000558201.5",
"protein_id": "ENSP00000452881.1",
"transcript_support_level": 5,
"aa_start": 563,
"aa_end": null,
"aa_length": 778,
"cds_start": 1688,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Ser",
"transcript": "NM_001438148.1",
"protein_id": "NP_001425077.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 774,
"cds_start": 1676,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Ser",
"transcript": "ENST00000560939.5",
"protein_id": "ENSP00000452933.1",
"transcript_support_level": 5,
"aa_start": 559,
"aa_end": null,
"aa_length": 774,
"cds_start": 1676,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1670C>G",
"hgvs_p": "p.Thr557Ser",
"transcript": "NM_005078.4",
"protein_id": "NP_005069.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 772,
"cds_start": 1670,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1670C>G",
"hgvs_p": "p.Thr557Ser",
"transcript": "ENST00000559048.5",
"protein_id": "ENSP00000453760.1",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 772,
"cds_start": 1670,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1658C>G",
"hgvs_p": "p.Thr553Ser",
"transcript": "ENST00000952209.1",
"protein_id": "ENSP00000622268.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 768,
"cds_start": 1658,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1655C>G",
"hgvs_p": "p.Thr552Ser",
"transcript": "NM_001282980.2",
"protein_id": "NP_001269909.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 767,
"cds_start": 1655,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1652C>G",
"hgvs_p": "p.Thr551Ser",
"transcript": "NM_001438836.1",
"protein_id": "NP_001425765.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 766,
"cds_start": 1652,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1646C>G",
"hgvs_p": "p.Thr549Ser",
"transcript": "NM_001282979.2",
"protein_id": "NP_001269908.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 764,
"cds_start": 1646,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1643C>G",
"hgvs_p": "p.Thr548Ser",
"transcript": "NM_001438837.1",
"protein_id": "NP_001425766.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 763,
"cds_start": 1643,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Thr547Ser",
"transcript": "NM_001282981.2",
"protein_id": "NP_001269910.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 762,
"cds_start": 1640,
"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": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Thr547Ser",
"transcript": "ENST00000440567.7",
"protein_id": "ENSP00000415057.3",
"transcript_support_level": 2,
"aa_start": 547,
"aa_end": null,
"aa_length": 762,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561453.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "n.1520C>G",
"hgvs_p": null,
"transcript": "ENST00000654081.1",
"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": "ENST00000654081.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "n.*306C>G",
"hgvs_p": null,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "n.*42C>G",
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "n.*306C>G",
"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": "rs373800721",
"frequency_reference_population": 0.000011777818,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116359,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07675468921661377,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.1517,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.875,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001438147.1",
"gene_symbol": "TLE3",
"hgnc_id": 11839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1691C>G",
"hgvs_p": "p.Thr564Ser"
}
],
"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
}