← 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: 2-39755399-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=39755399&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 39755399,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_025264.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Tyr325Cys",
"transcript": "NM_025264.5",
"protein_id": "NP_079540.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 503,
"cds_start": 974,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": "ENST00000505747.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025264.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Tyr325Cys",
"transcript": "ENST00000505747.6",
"protein_id": "ENSP00000423933.1",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 503,
"cds_start": 974,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": "NM_025264.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505747.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.*183A>G",
"hgvs_p": null,
"transcript": "ENST00000378727.8",
"protein_id": "ENSP00000368001.4",
"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": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378727.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1935A>G",
"hgvs_p": null,
"transcript": "ENST00000460072.5",
"protein_id": null,
"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": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460072.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.*183A>G",
"hgvs_p": null,
"transcript": "ENST00000378727.8",
"protein_id": "ENSP00000368001.4",
"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": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378727.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.971A>G",
"hgvs_p": "p.Tyr324Cys",
"transcript": "ENST00000933810.1",
"protein_id": "ENSP00000603869.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 502,
"cds_start": 971,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933810.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Tyr309Cys",
"transcript": "ENST00000933808.1",
"protein_id": "ENSP00000603867.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 487,
"cds_start": 926,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933808.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Tyr308Cys",
"transcript": "ENST00000933809.1",
"protein_id": "ENSP00000603868.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 486,
"cds_start": 923,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933809.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.896A>G",
"hgvs_p": "p.Tyr299Cys",
"transcript": "ENST00000933811.1",
"protein_id": "ENSP00000603870.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 477,
"cds_start": 896,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933811.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Tyr325Cys",
"transcript": "NM_001321468.1",
"protein_id": "NP_001308397.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 415,
"cds_start": 974,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321468.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Tyr232Cys",
"transcript": "NM_001321469.1",
"protein_id": "NP_001308398.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 410,
"cds_start": 695,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321469.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "NM_001321470.1",
"protein_id": "NP_001308399.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 394,
"cds_start": 647,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321470.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Tyr185Cys",
"transcript": "ENST00000953485.1",
"protein_id": "ENSP00000623544.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 363,
"cds_start": 554,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953485.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Tyr232Cys",
"transcript": "NM_001321475.1",
"protein_id": "NP_001308404.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 322,
"cds_start": 695,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321475.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Tyr143Cys",
"transcript": "ENST00000933812.1",
"protein_id": "ENSP00000603871.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 321,
"cds_start": 428,
"cds_end": null,
"cds_length": 966,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 1417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933812.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Tyr117Cys",
"transcript": "ENST00000933813.1",
"protein_id": "ENSP00000603872.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 295,
"cds_start": 350,
"cds_end": null,
"cds_length": 888,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933813.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Tyr91Cys",
"transcript": "NM_001321477.1",
"protein_id": "NP_001308406.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 269,
"cds_start": 272,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321477.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Tyr91Cys",
"transcript": "NM_001321478.1",
"protein_id": "NP_001308407.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 269,
"cds_start": 272,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321478.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Tyr91Cys",
"transcript": "NM_001321479.1",
"protein_id": "NP_001308408.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 269,
"cds_start": 272,
"cds_end": null,
"cds_length": 810,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321479.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Tyr91Cys",
"transcript": "NM_001321480.1",
"protein_id": "NP_001308409.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 269,
"cds_start": 272,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321480.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Tyr91Cys",
"transcript": "NM_001321481.1",
"protein_id": "NP_001308410.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 269,
"cds_start": 272,
"cds_end": null,
"cds_length": 810,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321481.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Tyr309Cys",
"transcript": "XM_017005050.3",
"protein_id": "XP_016860539.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 487,
"cds_start": 926,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005050.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Tyr117Cys",
"transcript": "XM_011533119.3",
"protein_id": "XP_011531421.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 295,
"cds_start": 350,
"cds_end": null,
"cds_length": 888,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533119.3"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.963+490A>G",
"hgvs_p": null,
"transcript": "NM_001321474.1",
"protein_id": "NP_001308403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321474.1"
},
{
"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": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "c.263-10921A>G",
"hgvs_p": null,
"transcript": "ENST00000933814.1",
"protein_id": "ENSP00000603873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933814.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.*631A>G",
"hgvs_p": null,
"transcript": "ENST00000530522.1",
"protein_id": "ENSP00000434844.1",
"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": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1132A>G",
"hgvs_p": null,
"transcript": "NR_028102.1",
"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": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_028102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1423A>G",
"hgvs_p": null,
"transcript": "NR_135659.1",
"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": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1325A>G",
"hgvs_p": null,
"transcript": "NR_135660.1",
"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": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1413A>G",
"hgvs_p": null,
"transcript": "NR_135661.1",
"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": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1122A>G",
"hgvs_p": null,
"transcript": "NR_135662.1",
"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": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135662.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.722A>G",
"hgvs_p": null,
"transcript": "NR_135663.1",
"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": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.1315A>G",
"hgvs_p": null,
"transcript": "NR_135664.1",
"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": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"hgvs_c": "n.*631A>G",
"hgvs_p": null,
"transcript": "ENST00000530522.1",
"protein_id": "ENSP00000434844.1",
"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": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124905994",
"gene_hgnc_id": null,
"hgvs_c": "n.*55T>C",
"hgvs_p": null,
"transcript": "XR_007086294.1",
"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": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007086294.1"
}
],
"gene_symbol": "THUMPD2",
"gene_hgnc_id": 14890,
"dbsnp": "rs550205144",
"frequency_reference_population": 0.000056920948,
"hom_count_reference_population": 1,
"allele_count_reference_population": 89,
"gnomad_exomes_af": 0.0000581041,
"gnomad_genomes_af": 0.0000459583,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37990522384643555,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.1671,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.175,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_025264.5",
"gene_symbol": "THUMPD2",
"hgnc_id": 14890,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.974A>G",
"hgvs_p": "p.Tyr325Cys"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "XR_007086294.1",
"gene_symbol": "LOC124905994",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*55T>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
}