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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: 13-60485877-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=60485877&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 60485877,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001146070.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "NM_001146070.2",
"protein_id": "NP_001139542.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 744,
"cds_start": 646,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377881.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146070.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "ENST00000377881.8",
"protein_id": "ENSP00000367113.2",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 744,
"cds_start": 646,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146070.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377881.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "ENST00000196169.7",
"protein_id": "ENSP00000196169.3",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 651,
"cds_start": 367,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000196169.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.364C>G",
"hgvs_p": "p.Pro122Ala",
"transcript": "ENST00000621840.4",
"protein_id": "ENSP00000477993.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 650,
"cds_start": 364,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621840.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "ENST00000886801.1",
"protein_id": "ENSP00000556860.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 744,
"cds_start": 646,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886801.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "ENST00000886804.1",
"protein_id": "ENSP00000556863.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 744,
"cds_start": 646,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886804.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "ENST00000886802.1",
"protein_id": "ENSP00000556861.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 697,
"cds_start": 646,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886802.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "ENST00000886803.1",
"protein_id": "ENSP00000556862.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 697,
"cds_start": 646,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886803.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "NM_001146071.1",
"protein_id": "NP_001139543.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 651,
"cds_start": 367,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146071.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "NM_030794.2",
"protein_id": "NP_110421.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 651,
"cds_start": 367,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030794.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "ENST00000377894.6",
"protein_id": "ENSP00000367126.2",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 651,
"cds_start": 367,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377894.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "ENST00000648252.1",
"protein_id": "ENSP00000498191.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 651,
"cds_start": 367,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648252.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Pro115Ala",
"transcript": "ENST00000962458.1",
"protein_id": "ENSP00000632517.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 643,
"cds_start": 343,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962458.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "ENST00000377882.7",
"protein_id": "ENSP00000367114.3",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 128,
"cds_start": 367,
"cds_end": null,
"cds_length": 389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377882.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Pro280Ala",
"transcript": "XM_047430681.1",
"protein_id": "XP_047286637.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 873,
"cds_start": 838,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430681.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Pro280Ala",
"transcript": "XM_024449416.2",
"protein_id": "XP_024305184.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 872,
"cds_start": 838,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449416.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "XM_005266556.5",
"protein_id": "XP_005266613.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 809,
"cds_start": 646,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266556.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "XM_047430682.1",
"protein_id": "XP_047286638.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 808,
"cds_start": 646,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430682.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Pro280Ala",
"transcript": "XM_047430683.1",
"protein_id": "XP_047286639.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 808,
"cds_start": 838,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430683.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "XM_047430684.1",
"protein_id": "XP_047286640.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 807,
"cds_start": 640,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430684.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Pro250Ala",
"transcript": "XM_047430685.1",
"protein_id": "XP_047286641.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 778,
"cds_start": 748,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430685.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "XM_005266560.3",
"protein_id": "XP_005266617.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 716,
"cds_start": 367,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266560.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.367C>G",
"hgvs_p": "p.Pro123Ala",
"transcript": "XM_024449417.2",
"protein_id": "XP_024305185.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 716,
"cds_start": 367,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449417.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Pro280Ala",
"transcript": "XM_047430687.1",
"protein_id": "XP_047286643.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 498,
"cds_start": 838,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430687.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "XM_047430688.1",
"protein_id": "XP_047286644.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 434,
"cds_start": 646,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "n.*81C>G",
"hgvs_p": null,
"transcript": "ENST00000484389.6",
"protein_id": "ENSP00000432703.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484389.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"hgvs_c": "n.*81C>G",
"hgvs_p": null,
"transcript": "ENST00000484389.6",
"protein_id": "ENSP00000432703.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484389.6"
}
],
"gene_symbol": "TDRD3",
"gene_hgnc_id": 20612,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06697309017181396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
"alphamissense_score": 0.0567,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.139,
"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": "NM_001146070.2",
"gene_symbol": "TDRD3",
"hgnc_id": 20612,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala"
}
],
"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
}