← 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: 17-82870181-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82870181&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82870181,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000355528.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "NM_005993.5",
"protein_id": "NP_005984.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "ENST00000355528.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000355528.9",
"protein_id": "ENSP00000347719.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "NM_005993.5",
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124904096",
"gene_hgnc_id": null,
"hgvs_c": "n.2446C>G",
"hgvs_p": null,
"transcript": "XR_007065971.1",
"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": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684760.1",
"protein_id": "ENSP00000507696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1281,
"cds_start": -4,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684349.1",
"protein_id": "ENSP00000508067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1254,
"cds_start": -4,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000539345.6",
"protein_id": "ENSP00000440671.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1230,
"cds_start": -4,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684464.1",
"protein_id": "ENSP00000508333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1409-43G>C",
"hgvs_p": null,
"transcript": "ENST00000682479.1",
"protein_id": "ENSP00000508214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1403-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684000.1",
"protein_id": "ENSP00000506795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1268-43G>C",
"hgvs_p": null,
"transcript": "NM_001411101.1",
"protein_id": "NP_001398030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1175,
"cds_start": -4,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1268-43G>C",
"hgvs_p": null,
"transcript": "ENST00000682722.1",
"protein_id": "ENSP00000508364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1175,
"cds_start": -4,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1247-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684429.1",
"protein_id": "ENSP00000507224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": -4,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "NM_001411102.1",
"protein_id": "NP_001398031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": -4,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684544.1",
"protein_id": "ENSP00000507337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1165,
"cds_start": -4,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000683282.1",
"protein_id": "ENSP00000506913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": -4,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1130-43G>C",
"hgvs_p": null,
"transcript": "NM_001438250.1",
"protein_id": "NP_001425179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": -4,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1130-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684188.1",
"protein_id": "ENSP00000507153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": -4,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "NM_001437989.1",
"protein_id": "NP_001424918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": -4,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684408.1",
"protein_id": "ENSP00000506837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": -4,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.-368-43G>C",
"hgvs_p": null,
"transcript": "ENST00000683821.1",
"protein_id": "ENSP00000507651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.-368-43G>C",
"hgvs_p": null,
"transcript": "ENST00000576160.6",
"protein_id": "ENSP00000458535.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.-368-43G>C",
"hgvs_p": null,
"transcript": "ENST00000576996.5",
"protein_id": "ENSP00000460450.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.-425-43G>C",
"hgvs_p": null,
"transcript": "ENST00000571712.5",
"protein_id": "ENSP00000459063.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.138-43G>C",
"hgvs_p": null,
"transcript": "ENST00000574801.5",
"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": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1455-43G>C",
"hgvs_p": null,
"transcript": "ENST00000681983.1",
"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": 8173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.216-43G>C",
"hgvs_p": null,
"transcript": "ENST00000682099.1",
"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": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000682213.1",
"protein_id": "ENSP00000508166.1",
"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": 6934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.559-43G>C",
"hgvs_p": null,
"transcript": "ENST00000682610.1",
"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": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.-368-43G>C",
"hgvs_p": null,
"transcript": "ENST00000682654.1",
"protein_id": "ENSP00000507412.1",
"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": 6175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1241-43G>C",
"hgvs_p": null,
"transcript": "ENST00000682921.1",
"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": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1439-43G>C",
"hgvs_p": null,
"transcript": "ENST00000683009.1",
"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": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000683041.1",
"protein_id": "ENSP00000506994.1",
"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": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.*972-43G>C",
"hgvs_p": null,
"transcript": "ENST00000683184.1",
"protein_id": "ENSP00000507757.1",
"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": 7050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.*896-43G>C",
"hgvs_p": null,
"transcript": "ENST00000683444.1",
"protein_id": "ENSP00000507553.1",
"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": 7265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.142-43G>C",
"hgvs_p": null,
"transcript": "ENST00000683584.1",
"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": 5839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1319-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684361.1",
"protein_id": "ENSP00000507364.1",
"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": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1224-43G>C",
"hgvs_p": null,
"transcript": "ENST00000684776.1",
"protein_id": "ENSP00000507861.1",
"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": 6966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1268-43G>C",
"hgvs_p": null,
"transcript": "XM_047436615.1",
"protein_id": "XP_047292571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": -4,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1130-43G>C",
"hgvs_p": null,
"transcript": "XM_047436616.1",
"protein_id": "XP_047292572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": -4,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "XM_047436617.1",
"protein_id": "XP_047292573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1122,
"cds_start": -4,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.974-43G>C",
"hgvs_p": null,
"transcript": "XM_011523589.3",
"protein_id": "XP_011521891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1077,
"cds_start": -4,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1268-43G>C",
"hgvs_p": null,
"transcript": "XM_047436619.1",
"protein_id": "XP_047292575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": -4,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.893-43G>C",
"hgvs_p": null,
"transcript": "XM_011523591.3",
"protein_id": "XP_011521893.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1050,
"cds_start": -4,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.623-43G>C",
"hgvs_p": null,
"transcript": "XM_047436618.1",
"protein_id": "XP_047292574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": -4,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.566-43G>C",
"hgvs_p": null,
"transcript": "XM_011523593.3",
"protein_id": "XP_011521895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": -4,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.35-43G>C",
"hgvs_p": null,
"transcript": "XM_005256399.6",
"protein_id": "XP_005256456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.23-43G>C",
"hgvs_p": null,
"transcript": "XM_006722291.5",
"protein_id": "XP_006722354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.35-43G>C",
"hgvs_p": null,
"transcript": "XM_047436622.1",
"protein_id": "XP_047292578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "XM_047436623.1",
"protein_id": "XP_047292579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": -4,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.63-13964G>C",
"hgvs_p": null,
"transcript": "XM_047436624.1",
"protein_id": "XP_047292580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null,
"transcript": "XM_017024988.2",
"protein_id": "XP_016880477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1268-43G>C",
"hgvs_p": null,
"transcript": "XM_047436626.1",
"protein_id": "XP_047292582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.35-43G>C",
"hgvs_p": null,
"transcript": "XM_047436628.1",
"protein_id": "XP_047292584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": -4,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.-368-43G>C",
"hgvs_p": null,
"transcript": "XM_017024990.3",
"protein_id": "XP_016880479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.-368-43G>C",
"hgvs_p": null,
"transcript": "XM_024450899.2",
"protein_id": "XP_024306667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.-368-43G>C",
"hgvs_p": null,
"transcript": "XM_024450900.2",
"protein_id": "XP_024306668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.-368-43G>C",
"hgvs_p": null,
"transcript": "XM_024450902.2",
"protein_id": "XP_024306670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"dbsnp": "rs3744161",
"frequency_reference_population": 0.0000075458443,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000754584,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.484,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000355528.9",
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1319-43G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007065971.1",
"gene_symbol": "LOC124904096",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2446C>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
}