← 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: 17-8232463-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8232463&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8232463,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000651323.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "NM_025099.6",
"protein_id": "NP_079375.3",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 7039,
"mane_select": "ENST00000651323.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "ENST00000651323.1",
"protein_id": "ENSP00000498499.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 1217,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 7039,
"mane_select": "NM_025099.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "NM_001411067.1",
"protein_id": "NP_001397996.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "ENST00000581729.2",
"protein_id": "ENSP00000462720.2",
"transcript_support_level": 3,
"aa_start": 653,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "ENST00000580299.2",
"protein_id": "ENSP00000462607.2",
"transcript_support_level": 5,
"aa_start": 653,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354Gln",
"transcript": "ENST00000699849.1",
"protein_id": "ENSP00000514647.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 841,
"cds_start": 1061,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1853G>A",
"hgvs_p": "p.Arg618Gln",
"transcript": "XM_011524010.3",
"protein_id": "XP_011522312.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1182,
"cds_start": 1853,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 6934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1829G>A",
"hgvs_p": "p.Arg610Gln",
"transcript": "XM_006721577.4",
"protein_id": "XP_006721640.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1174,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1724G>A",
"hgvs_p": "p.Arg575Gln",
"transcript": "XM_047436799.1",
"protein_id": "XP_047292755.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1724,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 6805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "XM_047436800.1",
"protein_id": "XP_047292756.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 1138,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3417,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1853G>A",
"hgvs_p": "p.Arg618Gln",
"transcript": "XM_047436801.1",
"protein_id": "XP_047292757.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 1105,
"cds_start": 1853,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1829G>A",
"hgvs_p": "p.Arg610Gln",
"transcript": "XM_047436802.1",
"protein_id": "XP_047292758.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1097,
"cds_start": 1829,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 6679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "XM_047436803.1",
"protein_id": "XP_047292759.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 1082,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "XM_047436804.1",
"protein_id": "XP_047292760.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1958,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "XM_047436805.1",
"protein_id": "XP_047292761.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 979,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1853G>A",
"hgvs_p": "p.Arg618Gln",
"transcript": "XM_047436806.1",
"protein_id": "XP_047292762.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 944,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354Gln",
"transcript": "XM_011524011.3",
"protein_id": "XP_011522313.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 918,
"cds_start": 1061,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 6465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354Gln",
"transcript": "XM_047436807.1",
"protein_id": "XP_047292763.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 918,
"cds_start": 1061,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 6461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln",
"transcript": "XM_047436808.1",
"protein_id": "XP_047292764.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 835,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1853G>A",
"hgvs_p": null,
"transcript": "ENST00000449476.7",
"protein_id": "ENSP00000396018.2",
"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": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"transcript": "ENST00000578240.1",
"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": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1947G>A",
"hgvs_p": null,
"transcript": "ENST00000581671.2",
"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": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.2410G>A",
"hgvs_p": null,
"transcript": "ENST00000581967.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.2664G>A",
"hgvs_p": null,
"transcript": "ENST00000583254.2",
"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": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*665G>A",
"hgvs_p": null,
"transcript": "ENST00000643543.1",
"protein_id": "ENSP00000494323.1",
"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": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1221G>A",
"hgvs_p": null,
"transcript": "ENST00000699850.1",
"protein_id": null,
"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": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1980G>A",
"hgvs_p": null,
"transcript": "ENST00000699851.1",
"protein_id": null,
"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": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*634G>A",
"hgvs_p": null,
"transcript": "ENST00000699852.1",
"protein_id": "ENSP00000514648.1",
"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": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1958G>A",
"hgvs_p": null,
"transcript": "ENST00000699853.1",
"protein_id": "ENSP00000514649.1",
"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": 4791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1751G>A",
"hgvs_p": null,
"transcript": "ENST00000699854.1",
"protein_id": null,
"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": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.2410G>A",
"hgvs_p": null,
"transcript": "ENST00000699855.1",
"protein_id": null,
"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": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1958G>A",
"hgvs_p": null,
"transcript": "ENST00000699856.1",
"protein_id": "ENSP00000514650.1",
"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": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1966G>A",
"hgvs_p": null,
"transcript": "ENST00000699857.1",
"protein_id": null,
"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": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*571G>A",
"hgvs_p": null,
"transcript": "ENST00000699858.1",
"protein_id": "ENSP00000514651.1",
"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": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1829G>A",
"hgvs_p": null,
"transcript": "ENST00000699859.1",
"protein_id": "ENSP00000514652.1",
"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": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.64G>A",
"hgvs_p": null,
"transcript": "ENST00000699860.1",
"protein_id": null,
"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": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1980G>A",
"hgvs_p": null,
"transcript": "ENST00000699861.1",
"protein_id": null,
"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": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.2918G>A",
"hgvs_p": null,
"transcript": "ENST00000699862.1",
"protein_id": null,
"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": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.1873G>A",
"hgvs_p": null,
"transcript": "NR_046431.2",
"protein_id": null,
"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": 6869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*665G>A",
"hgvs_p": null,
"transcript": "ENST00000643543.1",
"protein_id": "ENSP00000494323.1",
"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": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*634G>A",
"hgvs_p": null,
"transcript": "ENST00000699852.1",
"protein_id": "ENSP00000514648.1",
"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": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*571G>A",
"hgvs_p": null,
"transcript": "ENST00000699858.1",
"protein_id": "ENSP00000514651.1",
"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": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"dbsnp": "rs775779700",
"frequency_reference_population": 0.000061349696,
"hom_count_reference_population": 0,
"allele_count_reference_population": 99,
"gnomad_exomes_af": 0.0000595242,
"gnomad_genomes_af": 0.0000788903,
"gnomad_exomes_ac": 87,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05697616934776306,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.462,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0867,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000651323.1",
"gene_symbol": "CTC1",
"hgnc_id": 26169,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1958G>A",
"hgvs_p": "p.Arg653Gln"
}
],
"clinvar_disease": "Cerebroretinal microangiopathy with calcifications and cysts 1,Dyskeratosis congenita,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:2",
"phenotype_combined": "Dyskeratosis congenita|Cerebroretinal microangiopathy with calcifications and cysts 1|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}