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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: 3-38372682-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38372682&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38372682,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349178.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "NM_005108.4",
"protein_id": "NP_005099.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 793,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000207870.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005108.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000207870.8",
"protein_id": "ENSP00000207870.3",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 536,
"cds_start": 793,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005108.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000207870.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000854437.1",
"protein_id": "ENSP00000524496.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 571,
"cds_start": 793,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854437.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "NM_001349178.2",
"protein_id": "NP_001336107.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 562,
"cds_start": 793,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349178.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"transcript": "ENST00000650590.1",
"protein_id": "ENSP00000496840.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 555,
"cds_start": 712,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650590.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"transcript": "ENST00000854434.1",
"protein_id": "ENSP00000524493.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854434.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201Cys",
"transcript": "ENST00000854436.1",
"protein_id": "ENSP00000524495.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 472,
"cds_start": 601,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854436.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179Cys",
"transcript": "ENST00000854435.1",
"protein_id": "ENSP00000524494.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 450,
"cds_start": 535,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854435.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "NM_001349179.2",
"protein_id": "NP_001336108.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 399,
"cds_start": 382,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349179.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "XM_011534325.4",
"protein_id": "XP_011532627.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 823,
"cds_start": 793,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534325.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "XM_017007596.2",
"protein_id": "XP_016863085.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 757,
"cds_start": 595,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007596.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "XM_047449381.1",
"protein_id": "XP_047305337.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 757,
"cds_start": 595,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449381.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"transcript": "XM_047449382.1",
"protein_id": "XP_047305338.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 686,
"cds_start": 382,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449382.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "XM_011534327.3",
"protein_id": "XP_011532629.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 585,
"cds_start": 793,
"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": "XM_011534327.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "XM_011534328.4",
"protein_id": "XP_011532630.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 580,
"cds_start": 793,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534328.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "XM_011534329.3",
"protein_id": "XP_011532631.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 540,
"cds_start": 793,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534329.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "XM_011534330.4",
"protein_id": "XP_011532632.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 524,
"cds_start": 793,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534330.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.712C>T",
"hgvs_p": "p.Arg238Cys",
"transcript": "XM_047449383.1",
"protein_id": "XP_047305339.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449383.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"transcript": "XM_024453850.2",
"protein_id": "XP_024309618.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 470,
"cds_start": 595,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453850.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "XM_047449384.1",
"protein_id": "XP_047305340.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 430,
"cds_start": 793,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449384.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "c.153C>T",
"hgvs_p": "p.Ser51Ser",
"transcript": "XM_017007597.2",
"protein_id": "XP_016863086.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 596,
"cds_start": 153,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007597.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "n.*456C>T",
"hgvs_p": null,
"transcript": "ENST00000424034.5",
"protein_id": "ENSP00000398845.1",
"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": "ENST00000424034.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "n.793C>T",
"hgvs_p": null,
"transcript": "ENST00000649234.1",
"protein_id": "ENSP00000497023.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000649234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "n.726C>T",
"hgvs_p": null,
"transcript": "NR_146068.2",
"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": "NR_146068.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "n.877C>T",
"hgvs_p": null,
"transcript": "XR_001740393.3",
"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_001740393.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "n.877C>T",
"hgvs_p": null,
"transcript": "XR_001740394.3",
"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_001740394.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"hgvs_c": "n.*456C>T",
"hgvs_p": null,
"transcript": "ENST00000424034.5",
"protein_id": "ENSP00000398845.1",
"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": "ENST00000424034.5"
}
],
"gene_symbol": "XYLB",
"gene_hgnc_id": 12839,
"dbsnp": "rs374365370",
"frequency_reference_population": 0.000022922168,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000218897,
"gnomad_genomes_af": 0.0000328334,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8536801338195801,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.526,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2029,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.421,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349178.2",
"gene_symbol": "XYLB",
"hgnc_id": 12839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys"
}
],
"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
}