← 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: 17-59683971-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59683971&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59683971,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000269122.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln",
"transcript": "NM_004859.4",
"protein_id": "NP_004850.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4420,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 4657,
"cdna_end": null,
"cdna_length": 8369,
"mane_select": "ENST00000269122.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln",
"transcript": "ENST00000269122.8",
"protein_id": "ENSP00000269122.3",
"transcript_support_level": 1,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4420,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 4657,
"cdna_end": null,
"cdna_length": 8369,
"mane_select": "NM_004859.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln",
"transcript": "ENST00000393043.5",
"protein_id": "ENSP00000376763.1",
"transcript_support_level": 1,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4420,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 4694,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4537G>C",
"hgvs_p": "p.Glu1513Gln",
"transcript": "ENST00000700714.2",
"protein_id": "ENSP00000515154.2",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4537,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 4774,
"cdna_end": null,
"cdna_length": 6110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln",
"transcript": "ENST00000472651.6",
"protein_id": "ENSP00000465200.2",
"transcript_support_level": 2,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1682,
"cds_start": 4420,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 4642,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4435G>C",
"hgvs_p": "p.Glu1479Gln",
"transcript": "ENST00000700709.1",
"protein_id": "ENSP00000515149.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 1680,
"cds_start": 4435,
"cds_end": null,
"cds_length": 5043,
"cdna_start": 4667,
"cdna_end": null,
"cdna_length": 6073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4432G>C",
"hgvs_p": "p.Glu1478Gln",
"transcript": "NM_001288653.2",
"protein_id": "NP_001275582.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4432,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4669,
"cdna_end": null,
"cdna_length": 8381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4432G>C",
"hgvs_p": "p.Glu1478Gln",
"transcript": "ENST00000580081.2",
"protein_id": "ENSP00000462592.2",
"transcript_support_level": 4,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4432,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4659,
"cdna_end": null,
"cdna_length": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4432G>C",
"hgvs_p": "p.Glu1478Gln",
"transcript": "ENST00000700711.1",
"protein_id": "ENSP00000515151.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4432,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4647,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4423G>C",
"hgvs_p": "p.Glu1475Gln",
"transcript": "ENST00000700713.1",
"protein_id": "ENSP00000515153.1",
"transcript_support_level": null,
"aa_start": 1475,
"aa_end": null,
"aa_length": 1676,
"cds_start": 4423,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 4629,
"cdna_end": null,
"cdna_length": 5237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln",
"transcript": "ENST00000700707.1",
"protein_id": "ENSP00000515147.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1675,
"cds_start": 4420,
"cds_end": null,
"cds_length": 5028,
"cdna_start": 4785,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4399G>C",
"hgvs_p": "p.Glu1467Gln",
"transcript": "ENST00000714242.1",
"protein_id": "ENSP00000519522.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1668,
"cds_start": 4399,
"cds_end": null,
"cds_length": 5007,
"cdna_start": 4619,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln",
"transcript": "ENST00000700715.2",
"protein_id": "ENSP00000515155.2",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1656,
"cds_start": 4420,
"cds_end": null,
"cds_length": 4971,
"cdna_start": 4727,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4327G>C",
"hgvs_p": "p.Glu1443Gln",
"transcript": "ENST00000700712.1",
"protein_id": "ENSP00000515152.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4327,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 4750,
"cdna_end": null,
"cdna_length": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4327G>C",
"hgvs_p": "p.Glu1443Gln",
"transcript": "ENST00000714180.1",
"protein_id": "ENSP00000519469.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1644,
"cds_start": 4327,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 4686,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4309G>C",
"hgvs_p": "p.Glu1437Gln",
"transcript": "ENST00000714241.1",
"protein_id": "ENSP00000519521.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4309,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 4761,
"cdna_end": null,
"cdna_length": 6629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln",
"transcript": "ENST00000475458.3",
"protein_id": "ENSP00000461977.3",
"transcript_support_level": 2,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1629,
"cds_start": 4420,
"cds_end": null,
"cds_length": 4890,
"cdna_start": 4657,
"cdna_end": null,
"cdna_length": 5211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln",
"transcript": "ENST00000714182.1",
"protein_id": "ENSP00000519471.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4420,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 4626,
"cdna_end": null,
"cdna_length": 6055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4246G>C",
"hgvs_p": "p.Glu1416Gln",
"transcript": "ENST00000700708.1",
"protein_id": "ENSP00000515148.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4246,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4509,
"cdna_end": null,
"cdna_length": 6013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.4132G>C",
"hgvs_p": "p.Glu1378Gln",
"transcript": "ENST00000700710.1",
"protein_id": "ENSP00000515150.1",
"transcript_support_level": null,
"aa_start": 1378,
"aa_end": null,
"aa_length": 1579,
"cds_start": 4132,
"cds_end": null,
"cds_length": 4740,
"cdna_start": 4356,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.1231G>C",
"hgvs_p": "p.Glu411Gln",
"transcript": "ENST00000579456.5",
"protein_id": "ENSP00000462252.1",
"transcript_support_level": 5,
"aa_start": 411,
"aa_end": null,
"aa_length": 612,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "n.140G>C",
"hgvs_p": null,
"transcript": "ENST00000496076.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "n.*179G>C",
"hgvs_p": null,
"transcript": "ENST00000714181.1",
"protein_id": "ENSP00000519470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "n.*3120G>C",
"hgvs_p": null,
"transcript": "ENST00000714243.1",
"protein_id": "ENSP00000519523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "n.*179G>C",
"hgvs_p": null,
"transcript": "ENST00000714181.1",
"protein_id": "ENSP00000519470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "n.*3120G>C",
"hgvs_p": null,
"transcript": "ENST00000714243.1",
"protein_id": "ENSP00000519523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PTRH2",
"gene_hgnc_id": 24265,
"hgvs_c": "n.46-4427C>G",
"hgvs_p": null,
"transcript": "ENST00000587935.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"dbsnp": "rs1555607504",
"frequency_reference_population": 6.9905724e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.99057e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.561721920967102,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.32,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8428,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 10.003,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000269122.8",
"gene_symbol": "CLTC",
"hgnc_id": 2092,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4420G>C",
"hgvs_p": "p.Glu1474Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000587935.1",
"gene_symbol": "PTRH2",
"hgnc_id": 24265,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.46-4427C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}