← 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: 1-212815137-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=212815137&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 212815137,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001146171.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.806G>T",
"hgvs_p": "p.Arg269Leu",
"transcript": "NM_001042552.3",
"protein_id": "NP_001036017.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 274,
"cds_start": 806,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366974.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042552.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.806G>T",
"hgvs_p": "p.Arg269Leu",
"transcript": "ENST00000366974.9",
"protein_id": "ENSP00000355941.4",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 274,
"cds_start": 806,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042552.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366974.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.803G>T",
"hgvs_p": "p.Arg268Leu",
"transcript": "ENST00000366973.8",
"protein_id": "ENSP00000355940.4",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 273,
"cds_start": 803,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366973.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.*70G>T",
"hgvs_p": null,
"transcript": "ENST00000531963.5",
"protein_id": "ENSP00000433755.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531963.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Arg287Leu",
"transcript": "ENST00000950486.1",
"protein_id": "ENSP00000620545.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 292,
"cds_start": 860,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950486.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Arg282Leu",
"transcript": "ENST00000933547.1",
"protein_id": "ENSP00000603606.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 287,
"cds_start": 845,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933547.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Arg276Leu",
"transcript": "NM_001146171.2",
"protein_id": "NP_001139643.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 281,
"cds_start": 827,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146171.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Arg276Leu",
"transcript": "ENST00000532324.5",
"protein_id": "ENSP00000431376.1",
"transcript_support_level": 2,
"aa_start": 276,
"aa_end": null,
"aa_length": 281,
"cds_start": 827,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532324.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.803G>T",
"hgvs_p": "p.Arg268Leu",
"transcript": "NM_001042553.3",
"protein_id": "NP_001036018.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 273,
"cds_start": 803,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042553.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.800G>T",
"hgvs_p": "p.Arg267Leu",
"transcript": "ENST00000883558.1",
"protein_id": "ENSP00000553617.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 272,
"cds_start": 800,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883558.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"transcript": "ENST00000933544.1",
"protein_id": "ENSP00000603603.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 262,
"cds_start": 770,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933544.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"transcript": "ENST00000950484.1",
"protein_id": "ENSP00000620543.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 260,
"cds_start": 764,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950484.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.749G>T",
"hgvs_p": "p.Arg250Leu",
"transcript": "ENST00000933546.1",
"protein_id": "ENSP00000603605.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 255,
"cds_start": 749,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933546.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.743G>T",
"hgvs_p": "p.Arg248Leu",
"transcript": "NM_001146170.2",
"protein_id": "NP_001139642.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 253,
"cds_start": 743,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146170.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.743G>T",
"hgvs_p": "p.Arg248Leu",
"transcript": "ENST00000526641.5",
"protein_id": "ENSP00000434801.1",
"transcript_support_level": 2,
"aa_start": 248,
"aa_end": null,
"aa_length": 253,
"cds_start": 743,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526641.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.740G>T",
"hgvs_p": "p.Arg247Leu",
"transcript": "ENST00000883560.1",
"protein_id": "ENSP00000553619.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 252,
"cds_start": 740,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883560.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.725G>T",
"hgvs_p": "p.Arg242Leu",
"transcript": "ENST00000883559.1",
"protein_id": "ENSP00000553618.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 247,
"cds_start": 725,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883559.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.527G>T",
"hgvs_p": "p.Arg176Leu",
"transcript": "ENST00000933545.1",
"protein_id": "ENSP00000603604.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 181,
"cds_start": 527,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933545.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Arg175Leu",
"transcript": "ENST00000933548.1",
"protein_id": "ENSP00000603607.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 180,
"cds_start": 524,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933548.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu",
"transcript": "ENST00000883561.1",
"protein_id": "ENSP00000553620.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 160,
"cds_start": 464,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883561.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu",
"transcript": "ENST00000950485.1",
"protein_id": "ENSP00000620544.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 159,
"cds_start": 461,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950485.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Arg128Leu",
"transcript": "ENST00000883562.1",
"protein_id": "ENSP00000553621.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 133,
"cds_start": 383,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883562.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"transcript": "XM_017000328.3",
"protein_id": "XP_016855817.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 260,
"cds_start": 764,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000328.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.740G>T",
"hgvs_p": "p.Arg247Leu",
"transcript": "XM_017000329.2",
"protein_id": "XP_016855818.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 252,
"cds_start": 740,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000329.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.725G>T",
"hgvs_p": "p.Arg242Leu",
"transcript": "XM_017000330.3",
"protein_id": "XP_016855819.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 247,
"cds_start": 725,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000330.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.647G>T",
"hgvs_p": "p.Arg216Leu",
"transcript": "XM_024453283.2",
"protein_id": "XP_024309051.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 221,
"cds_start": 647,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453283.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.*70G>T",
"hgvs_p": null,
"transcript": "NM_001146169.2",
"protein_id": "NP_001139641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146169.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.*114G>T",
"hgvs_p": null,
"transcript": "NM_001363589.2",
"protein_id": "NP_001350518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363589.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.*114G>T",
"hgvs_p": null,
"transcript": "NM_001363590.2",
"protein_id": "NP_001350519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363590.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.*114G>T",
"hgvs_p": null,
"transcript": "ENST00000526997.5",
"protein_id": "ENSP00000436364.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526997.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.*114G>T",
"hgvs_p": null,
"transcript": "ENST00000527693.1",
"protein_id": "ENSP00000432006.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "c.*114G>T",
"hgvs_p": null,
"transcript": "XM_047446340.1",
"protein_id": "XP_047302296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446340.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "n.962G>T",
"hgvs_p": null,
"transcript": "ENST00000525569.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000525569.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "n.*535G>T",
"hgvs_p": null,
"transcript": "ENST00000525574.5",
"protein_id": "ENSP00000433143.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525574.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"hgvs_c": "n.*535G>T",
"hgvs_p": null,
"transcript": "ENST00000525574.5",
"protein_id": "ENSP00000433143.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525574.5"
}
],
"gene_symbol": "TATDN3",
"gene_hgnc_id": 27010,
"dbsnp": "rs147372063",
"frequency_reference_population": 6.852159e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85216e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08702453970909119,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.1683,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.469,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001146171.2",
"gene_symbol": "TATDN3",
"hgnc_id": 27010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Arg276Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}