← 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: 19-13105039-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13105039&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13105039,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017722.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Pro626Ser",
"transcript": "NM_001136035.4",
"protein_id": "NP_001129507.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 659,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357720.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136035.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Pro626Ser",
"transcript": "ENST00000357720.9",
"protein_id": "ENSP00000350352.4",
"transcript_support_level": 2,
"aa_start": 626,
"aa_end": null,
"aa_length": 659,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136035.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357720.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Pro626Ser",
"transcript": "ENST00000437766.5",
"protein_id": "ENSP00000416149.1",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 659,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437766.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Pro597Ser",
"transcript": "ENST00000221504.12",
"protein_id": "ENSP00000221504.7",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 630,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221504.12"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Pro626Ser",
"transcript": "NM_017722.5",
"protein_id": "NP_060192.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 659,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017722.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Pro626Ser",
"transcript": "ENST00000592062.5",
"protein_id": "ENSP00000466967.1",
"transcript_support_level": 5,
"aa_start": 626,
"aa_end": null,
"aa_length": 659,
"cds_start": 1876,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592062.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Pro625Ser",
"transcript": "ENST00000913623.1",
"protein_id": "ENSP00000583682.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 658,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913623.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Pro625Ser",
"transcript": "ENST00000913624.1",
"protein_id": "ENSP00000583683.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 658,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913624.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1852C>T",
"hgvs_p": "p.Pro618Ser",
"transcript": "ENST00000907296.1",
"protein_id": "ENSP00000577355.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 651,
"cds_start": 1852,
"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": "ENST00000907296.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Pro604Ser",
"transcript": "ENST00000907297.1",
"protein_id": "ENSP00000577356.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 637,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907297.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Pro597Ser",
"transcript": "NM_001142554.3",
"protein_id": "NP_001136026.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 630,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142554.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Pro597Ser",
"transcript": "NM_001351760.2",
"protein_id": "NP_001338689.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 630,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351760.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Pro597Ser",
"transcript": "ENST00000907294.1",
"protein_id": "ENSP00000577353.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 630,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907294.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Pro596Ser",
"transcript": "ENST00000913628.1",
"protein_id": "ENSP00000583687.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 629,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913628.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1768C>T",
"hgvs_p": "p.Pro590Ser",
"transcript": "NM_001351761.2",
"protein_id": "NP_001338690.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 623,
"cds_start": 1768,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351761.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1765C>T",
"hgvs_p": "p.Pro589Ser",
"transcript": "ENST00000907295.1",
"protein_id": "ENSP00000577354.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 622,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907295.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Pro584Ser",
"transcript": "ENST00000913627.1",
"protein_id": "ENSP00000583686.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 617,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913627.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Pro581Ser",
"transcript": "ENST00000907298.1",
"protein_id": "ENSP00000577357.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 614,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907298.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Pro572Ser",
"transcript": "ENST00000913622.1",
"protein_id": "ENSP00000583681.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 605,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913622.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Pro552Ser",
"transcript": "ENST00000960268.1",
"protein_id": "ENSP00000630327.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 585,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960268.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Pro528Ser",
"transcript": "ENST00000913625.1",
"protein_id": "ENSP00000583684.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 561,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913625.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1549C>T",
"hgvs_p": "p.Pro517Ser",
"transcript": "ENST00000913626.1",
"protein_id": "ENSP00000583685.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 550,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913626.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Pro365Ser",
"transcript": "NM_001351762.2",
"protein_id": "NP_001338691.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 398,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351762.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "n.2151C>T",
"hgvs_p": null,
"transcript": "ENST00000588511.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588511.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"hgvs_c": "n.1995C>T",
"hgvs_p": null,
"transcript": "ENST00000593157.5",
"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": "retained_intron",
"feature": "ENST00000593157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304024",
"gene_hgnc_id": null,
"hgvs_c": "n.479+129G>A",
"hgvs_p": null,
"transcript": "ENST00000798943.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798943.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304024",
"gene_hgnc_id": null,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000798944.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000798944.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105372282",
"gene_hgnc_id": null,
"hgvs_c": "n.*133G>A",
"hgvs_p": null,
"transcript": "XR_001753871.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001753871.2"
}
],
"gene_symbol": "TRMT1",
"gene_hgnc_id": 25980,
"dbsnp": "rs771237572",
"frequency_reference_population": 6.864784e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86478e-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": 0.08903816342353821,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.07,
"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": 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_017722.5",
"gene_symbol": "TRMT1",
"hgnc_id": 25980,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Pro626Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000798943.1",
"gene_symbol": "ENSG00000304024",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.479+129G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001753871.2",
"gene_symbol": "LOC105372282",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*133G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}