← Back to variant description
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: 5-34867014-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34867014&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 34867014,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001386170.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "NM_144725.4",
"protein_id": "NP_653326.3",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 361,
"cds_start": 785,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505624.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144725.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000505624.6",
"protein_id": "ENSP00000422188.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 361,
"cds_start": 785,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144725.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505624.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000610313.1",
"protein_id": "ENSP00000484792.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 287,
"cds_start": 785,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610313.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000514080.2",
"protein_id": "ENSP00000497109.1",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 413,
"cds_start": 785,
"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": "ENST00000514080.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000698543.1",
"protein_id": "ENSP00000513788.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 411,
"cds_start": 785,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698543.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "NM_001386170.1",
"protein_id": "NP_001373099.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 407,
"cds_start": 785,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386170.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ala271Val",
"transcript": "NM_001386171.1",
"protein_id": "NP_001373100.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386171.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ala271Val",
"transcript": "NM_001317949.2",
"protein_id": "NP_001304878.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 370,
"cds_start": 812,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317949.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "NM_001386169.1",
"protein_id": "NP_001373098.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 369,
"cds_start": 785,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386169.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "NM_001386172.1",
"protein_id": "NP_001373101.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 361,
"cds_start": 785,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386172.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "ENST00000638320.2",
"protein_id": "ENSP00000491000.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 358,
"cds_start": 785,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638320.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ala271Val",
"transcript": "XM_017009119.3",
"protein_id": "XP_016864608.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 422,
"cds_start": 812,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009119.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_011513984.4",
"protein_id": "XP_011512286.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 413,
"cds_start": 785,
"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": "XM_011513984.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_017009120.3",
"protein_id": "XP_016864609.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 413,
"cds_start": 785,
"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": "XM_017009120.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_017009121.3",
"protein_id": "XP_016864610.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 413,
"cds_start": 785,
"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": "XM_017009121.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_017009122.3",
"protein_id": "XP_016864611.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 413,
"cds_start": 785,
"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": "XM_017009122.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_047416824.1",
"protein_id": "XP_047272780.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 413,
"cds_start": 785,
"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": "XM_047416824.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_011513985.3",
"protein_id": "XP_011512287.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 369,
"cds_start": 785,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513985.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_017009123.3",
"protein_id": "XP_016864612.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 366,
"cds_start": 785,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009123.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "XM_017009124.3",
"protein_id": "XP_016864613.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 317,
"cds_start": 497,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009124.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ala271Val",
"transcript": "XM_047416825.1",
"protein_id": "XP_047272781.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 306,
"cds_start": 812,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416825.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_011513987.4",
"protein_id": "XP_011512289.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 297,
"cds_start": 785,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513987.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ala146Val",
"transcript": "XM_017009126.3",
"protein_id": "XP_016864615.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 297,
"cds_start": 437,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009126.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val",
"transcript": "XM_047416826.1",
"protein_id": "XP_047272782.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 297,
"cds_start": 785,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416826.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "n.785C>T",
"hgvs_p": null,
"transcript": "ENST00000502674.5",
"protein_id": "ENSP00000425242.1",
"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": "ENST00000502674.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "n.*324C>T",
"hgvs_p": null,
"transcript": "ENST00000508722.5",
"protein_id": "ENSP00000424418.1",
"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": "ENST00000508722.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "n.868C>T",
"hgvs_p": null,
"transcript": "NR_169874.1",
"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": "NR_169874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "n.681C>T",
"hgvs_p": null,
"transcript": "NR_169875.1",
"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": "NR_169875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "n.755C>T",
"hgvs_p": null,
"transcript": "NR_169876.1",
"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": "NR_169876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"hgvs_c": "n.*324C>T",
"hgvs_p": null,
"transcript": "ENST00000508722.5",
"protein_id": "ENSP00000424418.1",
"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": "ENST00000508722.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302680",
"gene_hgnc_id": null,
"hgvs_c": "n.115+1866G>A",
"hgvs_p": null,
"transcript": "ENST00000788862.1",
"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": "ENST00000788862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302680",
"gene_hgnc_id": null,
"hgvs_c": "n.278+1866G>A",
"hgvs_p": null,
"transcript": "ENST00000788863.1",
"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": "ENST00000788863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302680",
"gene_hgnc_id": null,
"hgvs_c": "n.347+1866G>A",
"hgvs_p": null,
"transcript": "ENST00000788864.1",
"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": "ENST00000788864.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124900959",
"gene_hgnc_id": null,
"hgvs_c": "n.581+1866G>A",
"hgvs_p": null,
"transcript": "XR_007058729.1",
"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": "XR_007058729.1"
}
],
"gene_symbol": "TTC23L",
"gene_hgnc_id": 26355,
"dbsnp": "rs776576080",
"frequency_reference_population": 0.0000043422324,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342504,
"gnomad_genomes_af": 0.0000131375,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7936757802963257,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.659,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6431,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.081,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001386170.1",
"gene_symbol": "TTC23L",
"hgnc_id": 26355,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.785C>T",
"hgvs_p": "p.Ala262Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000788862.1",
"gene_symbol": "ENSG00000302680",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.115+1866G>A",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007058729.1",
"gene_symbol": "LOC124900959",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.581+1866G>A",
"hgvs_p": null
}
],
"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
}