← 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: X-101021223-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101021223&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101021223,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024917.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "NM_024917.6",
"protein_id": "NP_079193.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372936.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024917.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "ENST00000372936.4",
"protein_id": "ENSP00000362027.3",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024917.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372936.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "ENST00000372935.5",
"protein_id": "ENSP00000362026.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372935.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "ENST00000545398.5",
"protein_id": "ENSP00000438134.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545398.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000372939.5",
"protein_id": "ENSP00000362030.1",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 459,
"cds_start": 809,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372939.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "NM_001167970.2",
"protein_id": "NP_001161442.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167970.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "NM_001167972.2",
"protein_id": "NP_001161444.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167972.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "ENST00000862825.1",
"protein_id": "ENSP00000532885.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862825.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "ENST00000862833.1",
"protein_id": "ENSP00000532892.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862833.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "ENST00000928862.1",
"protein_id": "ENSP00000598921.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928862.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "ENST00000943813.1",
"protein_id": "ENSP00000613872.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943813.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314His",
"transcript": "ENST00000928859.1",
"protein_id": "ENSP00000598918.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 503,
"cds_start": 941,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928859.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "NM_001167971.2",
"protein_id": "NP_001161443.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 459,
"cds_start": 809,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167971.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000862828.1",
"protein_id": "ENSP00000532887.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 459,
"cds_start": 809,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862828.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000862834.1",
"protein_id": "ENSP00000532893.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 459,
"cds_start": 809,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862834.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000928860.1",
"protein_id": "ENSP00000598919.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 459,
"cds_start": 809,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928860.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000943810.1",
"protein_id": "ENSP00000613869.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 459,
"cds_start": 809,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943810.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000943811.1",
"protein_id": "ENSP00000613870.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 459,
"cds_start": 809,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943811.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000928863.1",
"protein_id": "ENSP00000598922.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 455,
"cds_start": 797,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928863.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263His",
"transcript": "ENST00000862831.1",
"protein_id": "ENSP00000532890.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 452,
"cds_start": 788,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862831.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233His",
"transcript": "ENST00000928861.1",
"protein_id": "ENSP00000598920.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928861.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"transcript": "ENST00000943815.1",
"protein_id": "ENSP00000613874.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 407,
"cds_start": 653,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943815.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000943814.1",
"protein_id": "ENSP00000613873.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 402,
"cds_start": 638,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943814.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164His",
"transcript": "ENST00000943812.1",
"protein_id": "ENSP00000613871.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 353,
"cds_start": 491,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943812.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "XM_005262196.3",
"protein_id": "XP_005262253.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262196.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"transcript": "XM_047442532.1",
"protein_id": "XP_047298488.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 504,
"cds_start": 944,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442532.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "XM_047442533.1",
"protein_id": "XP_047298489.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 459,
"cds_start": 809,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442533.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "XM_011531042.3",
"protein_id": "XP_011529344.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 385,
"cds_start": 587,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531042.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "XM_017029865.2",
"protein_id": "XP_016885354.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 385,
"cds_start": 587,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029865.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "XM_017029870.2",
"protein_id": "XP_016885359.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 385,
"cds_start": 587,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029870.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "XM_047442534.1",
"protein_id": "XP_047298490.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 385,
"cds_start": 587,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442534.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_005262201.3",
"protein_id": "XP_005262258.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 265,
"cds_start": 227,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262201.3"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"hgvs_c": "n.1354G>A",
"hgvs_p": null,
"transcript": "XR_001755729.3",
"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_001755729.3"
}
],
"gene_symbol": "TRMT2B",
"gene_hgnc_id": 25748,
"dbsnp": "rs145912589",
"frequency_reference_population": 0.000009092788,
"hom_count_reference_population": 5,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000054653,
"gnomad_genomes_af": 0.0000446772,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3083377480506897,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.225,
"revel_prediction": "Benign",
"alphamissense_score": 0.1791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.375,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_024917.6",
"gene_symbol": "TRMT2B",
"hgnc_id": 25748,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}