← 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: 21-37191393-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=37191393&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 37191393,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320703.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5084C>T",
"hgvs_p": "p.Ser1695Phe",
"transcript": "NM_001330683.2",
"protein_id": "NP_001317612.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5084,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000418766.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330683.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5084C>T",
"hgvs_p": "p.Ser1695Phe",
"transcript": "ENST00000418766.6",
"protein_id": "ENSP00000403943.2",
"transcript_support_level": 5,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5084,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330683.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418766.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5084C>T",
"hgvs_p": "p.Ser1695Phe",
"transcript": "ENST00000354749.6",
"protein_id": "ENSP00000346791.2",
"transcript_support_level": 1,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5084,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354749.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5084C>T",
"hgvs_p": "p.Ser1695Phe",
"transcript": "ENST00000399017.6",
"protein_id": "ENSP00000381981.2",
"transcript_support_level": 1,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5084,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399017.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5084C>T",
"hgvs_p": "p.Ser1695Phe",
"transcript": "ENST00000450533.6",
"protein_id": "ENSP00000408456.2",
"transcript_support_level": 1,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5084,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450533.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "n.*4395C>T",
"hgvs_p": null,
"transcript": "ENST00000479930.5",
"protein_id": "ENSP00000512894.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000479930.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "n.*4395C>T",
"hgvs_p": null,
"transcript": "ENST00000479930.5",
"protein_id": "ENSP00000512894.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000479930.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTC3-AS1",
"gene_hgnc_id": 40595,
"hgvs_c": "n.119+2415G>A",
"hgvs_p": null,
"transcript": "ENST00000424733.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000424733.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5204C>T",
"hgvs_p": "p.Ser1735Phe",
"transcript": "NM_001320703.2",
"protein_id": "NP_001307632.1",
"transcript_support_level": null,
"aa_start": 1735,
"aa_end": null,
"aa_length": 2065,
"cds_start": 5204,
"cds_end": null,
"cds_length": 6198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320703.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5138C>T",
"hgvs_p": "p.Ser1713Phe",
"transcript": "NM_001320704.2",
"protein_id": "NP_001307633.1",
"transcript_support_level": null,
"aa_start": 1713,
"aa_end": null,
"aa_length": 2043,
"cds_start": 5138,
"cds_end": null,
"cds_length": 6132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320704.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5138C>T",
"hgvs_p": "p.Ser1713Phe",
"transcript": "ENST00000411496.2",
"protein_id": "ENSP00000387880.2",
"transcript_support_level": 3,
"aa_start": 1713,
"aa_end": null,
"aa_length": 2043,
"cds_start": 5138,
"cds_end": null,
"cds_length": 6132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411496.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5132C>T",
"hgvs_p": "p.Ser1711Phe",
"transcript": "ENST00000696811.1",
"protein_id": "ENSP00000512890.1",
"transcript_support_level": null,
"aa_start": 1711,
"aa_end": null,
"aa_length": 2043,
"cds_start": 5132,
"cds_end": null,
"cds_length": 6132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696811.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5084C>T",
"hgvs_p": "p.Ser1695Phe",
"transcript": "NM_001001894.3",
"protein_id": "NP_001001894.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5084,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001894.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.5084C>T",
"hgvs_p": "p.Ser1695Phe",
"transcript": "NM_003316.4",
"protein_id": "NP_003307.3",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2025,
"cds_start": 5084,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003316.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.4154C>T",
"hgvs_p": "p.Ser1385Phe",
"transcript": "NM_001330681.2",
"protein_id": "NP_001317610.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1715,
"cds_start": 4154,
"cds_end": null,
"cds_length": 5148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330681.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.4154C>T",
"hgvs_p": "p.Ser1385Phe",
"transcript": "NM_001330682.2",
"protein_id": "NP_001317611.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1715,
"cds_start": 4154,
"cds_end": null,
"cds_length": 5148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330682.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.4154C>T",
"hgvs_p": "p.Ser1385Phe",
"transcript": "NM_001353936.2",
"protein_id": "NP_001340865.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1715,
"cds_start": 4154,
"cds_end": null,
"cds_length": 5148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353936.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.4154C>T",
"hgvs_p": "p.Ser1385Phe",
"transcript": "ENST00000463216.6",
"protein_id": "ENSP00000512893.1",
"transcript_support_level": 5,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1715,
"cds_start": 4154,
"cds_end": null,
"cds_length": 5148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463216.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.4154C>T",
"hgvs_p": "p.Ser1385Phe",
"transcript": "ENST00000492275.6",
"protein_id": "ENSP00000512889.1",
"transcript_support_level": 3,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1715,
"cds_start": 4154,
"cds_end": null,
"cds_length": 5148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492275.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.2918C>T",
"hgvs_p": "p.Ser973Phe",
"transcript": "NM_001353937.2",
"protein_id": "NP_001340866.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353937.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.2918C>T",
"hgvs_p": "p.Ser973Phe",
"transcript": "NM_001353938.2",
"protein_id": "NP_001340867.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1303,
"cds_start": 2918,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353938.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ser20Phe",
"transcript": "ENST00000428693.1",
"protein_id": "ENSP00000393681.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 316,
"cds_start": 59,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "n.4893C>T",
"hgvs_p": null,
"transcript": "ENST00000476784.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000476784.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "n.*2697C>T",
"hgvs_p": null,
"transcript": "ENST00000696812.1",
"protein_id": "ENSP00000512891.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"hgvs_c": "n.*2697C>T",
"hgvs_p": null,
"transcript": "ENST00000696812.1",
"protein_id": "ENSP00000512891.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696812.1"
},
{
"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": "TTC3-AS1",
"gene_hgnc_id": 40595,
"hgvs_c": "n.119+2415G>A",
"hgvs_p": null,
"transcript": "NR_046651.1",
"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_046651.1"
}
],
"gene_symbol": "TTC3",
"gene_hgnc_id": 12393,
"dbsnp": "rs1203933476",
"frequency_reference_population": 0.000011988259,
"hom_count_reference_population": 1,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000111669,
"gnomad_genomes_af": 0.0000197275,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27573320269584656,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.183,
"revel_prediction": "Benign",
"alphamissense_score": 0.1488,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.227,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001320703.2",
"gene_symbol": "TTC3",
"hgnc_id": 12393,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5204C>T",
"hgvs_p": "p.Ser1735Phe"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000424733.1",
"gene_symbol": "TTC3-AS1",
"hgnc_id": 40595,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.119+2415G>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
}