← 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: 8-80053345-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=80053345&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 80053345,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001387778.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "NM_001025253.3",
"protein_id": "NP_001020424.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 207,
"cds_start": 221,
"cds_end": null,
"cds_length": 624,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": "ENST00000518937.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025253.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "ENST00000518937.6",
"protein_id": "ENSP00000429915.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 207,
"cds_start": 221,
"cds_end": null,
"cds_length": 624,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": "NM_001025253.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518937.6"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr",
"transcript": "ENST00000520527.5",
"protein_id": "ENSP00000429309.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 247,
"cds_start": 341,
"cds_end": null,
"cds_length": 744,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520527.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr",
"transcript": "ENST00000448733.3",
"protein_id": "ENSP00000410222.2",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 238,
"cds_start": 341,
"cds_end": null,
"cds_length": 717,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448733.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr",
"transcript": "ENST00000517427.5",
"protein_id": "ENSP00000429351.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 233,
"cds_start": 341,
"cds_end": null,
"cds_length": 702,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517427.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr",
"transcript": "ENST00000379097.7",
"protein_id": "ENSP00000368391.3",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 224,
"cds_start": 341,
"cds_end": null,
"cds_length": 675,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379097.7"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "ENST00000379096.9",
"protein_id": "ENSP00000368390.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 184,
"cds_start": 221,
"cds_end": null,
"cds_length": 555,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379096.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.-221A>C",
"hgvs_p": null,
"transcript": "ENST00000519303.6",
"protein_id": "ENSP00000428951.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519303.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.341A>C",
"hgvs_p": null,
"transcript": "ENST00000517462.6",
"protein_id": "ENSP00000429708.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000517462.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276418",
"gene_hgnc_id": null,
"hgvs_c": "n.341A>C",
"hgvs_p": null,
"transcript": "ENST00000522938.5",
"protein_id": "ENSP00000430858.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522938.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52-MRPS28",
"gene_hgnc_id": null,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "NM_001387778.1",
"protein_id": "NP_001374707.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 261,
"cds_start": 221,
"cds_end": null,
"cds_length": 786,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387778.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr",
"transcript": "NM_001287140.2",
"protein_id": "NP_001274069.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 247,
"cds_start": 341,
"cds_end": null,
"cds_length": 744,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287140.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr",
"transcript": "NM_001287142.2",
"protein_id": "NP_001274071.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 238,
"cds_start": 341,
"cds_end": null,
"cds_length": 717,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287142.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr",
"transcript": "NM_001287143.2",
"protein_id": "NP_001274072.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 233,
"cds_start": 341,
"cds_end": null,
"cds_length": 702,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287143.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr",
"transcript": "NM_001025252.3",
"protein_id": "NP_001020423.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 224,
"cds_start": 341,
"cds_end": null,
"cds_length": 675,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 4423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025252.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "ENST00000861105.1",
"protein_id": "ENSP00000531164.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 221,
"cds_end": null,
"cds_length": 582,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861105.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "NM_005079.4",
"protein_id": "NP_005070.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 184,
"cds_start": 221,
"cds_end": null,
"cds_length": 555,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005079.4"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.245A>C",
"hgvs_p": "p.Asn82Thr",
"transcript": "NM_001387780.1",
"protein_id": "NP_001374709.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 162,
"cds_start": 245,
"cds_end": null,
"cds_length": 489,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387780.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "NM_001387779.1",
"protein_id": "NP_001374708.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 154,
"cds_start": 221,
"cds_end": null,
"cds_length": 465,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387779.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "ENST00000861106.1",
"protein_id": "ENSP00000531165.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 150,
"cds_start": 221,
"cds_end": null,
"cds_length": 453,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861106.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.377A>C",
"hgvs_p": "p.Asn126Thr",
"transcript": "ENST00000520795.5",
"protein_id": "ENSP00000430865.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 146,
"cds_start": 377,
"cds_end": null,
"cds_length": 443,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520795.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "NM_001287144.2",
"protein_id": "NP_001274073.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 145,
"cds_start": 221,
"cds_end": null,
"cds_length": 438,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 3917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287144.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr",
"transcript": "ENST00000861107.1",
"protein_id": "ENSP00000531166.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 145,
"cds_start": 221,
"cds_end": null,
"cds_length": 438,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "c.90-10677A>C",
"hgvs_p": null,
"transcript": "ENST00000925382.1",
"protein_id": "ENSP00000595441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925382.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.9A>C",
"hgvs_p": null,
"transcript": "ENST00000517445.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 461,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000517445.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.161A>C",
"hgvs_p": null,
"transcript": "ENST00000518500.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 460,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000518500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.*174A>C",
"hgvs_p": null,
"transcript": "ENST00000518517.5",
"protein_id": "ENSP00000430421.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518517.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.437A>C",
"hgvs_p": null,
"transcript": "ENST00000519250.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519250.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.221A>C",
"hgvs_p": null,
"transcript": "ENST00000521241.6",
"protein_id": "ENSP00000430323.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 723,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521241.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.105A>C",
"hgvs_p": null,
"transcript": "ENST00000521354.5",
"protein_id": "ENSP00000430646.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521354.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.502A>C",
"hgvs_p": null,
"transcript": "ENST00000522364.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 716,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000522364.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.279A>C",
"hgvs_p": null,
"transcript": "ENST00000523319.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000523319.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.*174A>C",
"hgvs_p": null,
"transcript": "ENST00000523753.5",
"protein_id": "ENSP00000430140.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523753.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.86A>C",
"hgvs_p": null,
"transcript": "ENST00000524194.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 334,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524194.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.718A>C",
"hgvs_p": null,
"transcript": "NR_105033.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_105033.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.226A>C",
"hgvs_p": null,
"transcript": "NR_105034.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_105034.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.412A>C",
"hgvs_p": null,
"transcript": "NR_105035.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_105035.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.303A>C",
"hgvs_p": null,
"transcript": "NR_105036.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_105036.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.373A>C",
"hgvs_p": null,
"transcript": "NR_105037.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_105037.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.342A>C",
"hgvs_p": null,
"transcript": "NR_170693.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170693.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.342A>C",
"hgvs_p": null,
"transcript": "NR_170694.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170694.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.*174A>C",
"hgvs_p": null,
"transcript": "ENST00000518517.5",
"protein_id": "ENSP00000430421.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000518517.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52",
"gene_hgnc_id": 12005,
"hgvs_c": "n.*174A>C",
"hgvs_p": null,
"transcript": "ENST00000523753.5",
"protein_id": "ENSP00000430140.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523753.5"
}
],
"gene_symbol": "TPD52-MRPS28",
"gene_hgnc_id": null,
"dbsnp": "rs200499338",
"frequency_reference_population": 0.000009915028,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000957921,
"gnomad_genomes_af": 0.0000131394,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0096302330493927,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0611,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.011,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001387778.1",
"gene_symbol": "TPD52-MRPS28",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Asn74Thr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001287140.2",
"gene_symbol": "TPD52",
"hgnc_id": 12005,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.341A>C",
"hgvs_p": "p.Asn114Thr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000522938.5",
"gene_symbol": "ENSG00000276418",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.341A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}