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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: 9-127723225-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127723225&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127723225,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_144965.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "NM_144965.3",
"protein_id": "NP_659402.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 873,
"cds_start": 764,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373289.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144965.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "ENST00000373289.4",
"protein_id": "ENSP00000362386.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 873,
"cds_start": 764,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144965.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373289.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "NM_001317037.2",
"protein_id": "NP_001303966.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 860,
"cds_start": 725,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317037.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "ENST00000956085.1",
"protein_id": "ENSP00000626144.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 828,
"cds_start": 764,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956085.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "ENST00000862124.1",
"protein_id": "ENSP00000532183.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 825,
"cds_start": 620,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862124.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_011518283.3",
"protein_id": "XP_011516585.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 828,
"cds_start": 764,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518283.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "XM_011518284.3",
"protein_id": "XP_011516586.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 825,
"cds_start": 620,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518284.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_011518285.3",
"protein_id": "XP_011516587.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 778,
"cds_start": 764,
"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": "XM_011518285.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_047422835.1",
"protein_id": "XP_047278791.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 733,
"cds_start": 764,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422835.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "XM_011518288.3",
"protein_id": "XP_011516590.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 730,
"cds_start": 620,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518288.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_047422837.1",
"protein_id": "XP_047278793.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 641,
"cds_start": 764,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422837.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_011518293.3",
"protein_id": "XP_011516595.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 617,
"cds_start": 764,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518293.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_011518294.3",
"protein_id": "XP_011516596.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 614,
"cds_start": 764,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518294.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Arg79His",
"transcript": "XM_047422838.1",
"protein_id": "XP_047278794.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 602,
"cds_start": 236,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422838.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Arg79His",
"transcript": "XM_047422839.1",
"protein_id": "XP_047278795.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 602,
"cds_start": 236,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422839.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_011518295.2",
"protein_id": "XP_011516597.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 599,
"cds_start": 764,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518295.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_047422840.1",
"protein_id": "XP_047278796.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 546,
"cds_start": 764,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422840.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_011518297.2",
"protein_id": "XP_011516599.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 477,
"cds_start": 764,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518297.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His",
"transcript": "XM_011518298.4",
"protein_id": "XP_011516600.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 424,
"cds_start": 764,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518298.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.255G>A",
"hgvs_p": "p.Ala85Ala",
"transcript": "XM_011518290.3",
"protein_id": "XP_011516592.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 695,
"cds_start": 255,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518290.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.255G>A",
"hgvs_p": "p.Ala85Ala",
"transcript": "XM_011518292.3",
"protein_id": "XP_011516594.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 670,
"cds_start": 255,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518292.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "c.255G>A",
"hgvs_p": "p.Ala85Ala",
"transcript": "XM_047422836.1",
"protein_id": "XP_047278792.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 656,
"cds_start": 255,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422836.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "PTRH1",
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"hgvs_c": "c.-1321+1512C>T",
"hgvs_p": null,
"transcript": "ENST00000419060.5",
"protein_id": "ENSP00000418661.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": null,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419060.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
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"hgvs_c": "n.214G>A",
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"transcript": "ENST00000488285.1",
"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": "ENST00000488285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"hgvs_c": "n.224G>A",
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"transcript": "ENST00000489226.5",
"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": "ENST00000489226.5"
},
{
"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": "PTRH1",
"gene_hgnc_id": 27039,
"hgvs_c": "n.306+1302C>T",
"hgvs_p": null,
"transcript": "ENST00000429848.1",
"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": "pseudogene",
"feature": "ENST00000429848.1"
}
],
"gene_symbol": "TTC16",
"gene_hgnc_id": 26536,
"dbsnp": "rs199762451",
"frequency_reference_population": 0.000023560486,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000225948,
"gnomad_genomes_af": 0.000032817,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12910041213035583,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0898,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.295,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144965.3",
"gene_symbol": "TTC16",
"hgnc_id": 26536,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419060.5",
"gene_symbol": "PTRH1",
"hgnc_id": 27039,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-1321+1512C>T",
"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
}