← 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: 5-176911380-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176911380&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 176911380,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016290.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "NM_001199298.2",
"protein_id": "NP_001186227.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000511320.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199298.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "ENST00000511320.6",
"protein_id": "ENSP00000421926.1",
"transcript_support_level": 1,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199298.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511320.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "ENST00000377227.8",
"protein_id": "ENSP00000366434.4",
"transcript_support_level": 1,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377227.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370Gln",
"transcript": "ENST00000506128.5",
"protein_id": "ENSP00000427480.1",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 553,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506128.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166Gln",
"transcript": "ENST00000510698.2",
"protein_id": "ENSP00000423717.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 349,
"cds_start": 497,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510698.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "NM_001199297.2",
"protein_id": "NP_001186226.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199297.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "NM_016290.4",
"protein_id": "NP_057374.3",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016290.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "ENST00000890107.1",
"protein_id": "ENSP00000560166.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890107.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "ENST00000924857.1",
"protein_id": "ENSP00000594916.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924857.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450Gln",
"transcript": "ENST00000890109.1",
"protein_id": "ENSP00000560168.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 633,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890109.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450Gln",
"transcript": "ENST00000924858.1",
"protein_id": "ENSP00000594917.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 633,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924858.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370Gln",
"transcript": "NM_001317961.1",
"protein_id": "NP_001304890.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 553,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317961.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296Gln",
"transcript": "ENST00000970269.1",
"protein_id": "ENSP00000640328.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 479,
"cds_start": 887,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970269.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "ENST00000890105.1",
"protein_id": "ENSP00000560164.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890105.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "ENST00000890106.1",
"protein_id": "ENSP00000560165.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890106.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "ENST00000890108.1",
"protein_id": "ENSP00000560167.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890108.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "ENST00000890110.1",
"protein_id": "ENSP00000560169.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890110.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Gln",
"transcript": "ENST00000970268.1",
"protein_id": "ENSP00000640327.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 352,
"cds_start": 506,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970268.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "XM_005265930.3",
"protein_id": "XP_005265987.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265930.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"transcript": "XM_006714871.3",
"protein_id": "XP_006714934.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 719,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714871.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437Gln",
"transcript": "XM_047417303.1",
"protein_id": "XP_047273259.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 620,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417303.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "XM_005265932.4",
"protein_id": "XP_005265989.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265932.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "XM_005265933.3",
"protein_id": "XP_005265990.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265933.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "XM_017009576.2",
"protein_id": "XP_016865065.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009576.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "XM_017009577.2",
"protein_id": "XP_016865066.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009577.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Arg233Gln",
"transcript": "XM_047417304.1",
"protein_id": "XP_047273260.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 416,
"cds_start": 698,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417304.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.824G>A",
"hgvs_p": null,
"transcript": "ENST00000503273.1",
"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": "pseudogene",
"feature": "ENST00000503273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.*1110G>A",
"hgvs_p": null,
"transcript": "ENST00000512031.5",
"protein_id": "ENSP00000425566.1",
"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": "ENST00000512031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.1842G>A",
"hgvs_p": null,
"transcript": "NR_146149.1",
"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": "NR_146149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.1760G>A",
"hgvs_p": null,
"transcript": "NR_146150.1",
"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": "NR_146150.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "n.*1110G>A",
"hgvs_p": null,
"transcript": "ENST00000512031.5",
"protein_id": "ENSP00000425566.1",
"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": "ENST00000512031.5"
},
{
"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": "ENSG00000298307",
"gene_hgnc_id": null,
"hgvs_c": "n.325+6901C>T",
"hgvs_p": null,
"transcript": "ENST00000754646.1",
"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": "ENST00000754646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"hgvs_c": "c.*45G>A",
"hgvs_p": null,
"transcript": "XM_011534570.2",
"protein_id": "XP_011532872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534570.2"
}
],
"gene_symbol": "UIMC1",
"gene_hgnc_id": 30298,
"dbsnp": "rs1311856146",
"frequency_reference_population": 0.000010108873,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000097827,
"gnomad_genomes_af": 0.0000131865,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1955181062221527,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3799999952316284,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.109,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.547,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.38,
"spliceai_max_prediction": "Uncertain_significance",
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016290.4",
"gene_symbol": "UIMC1",
"hgnc_id": 30298,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000754646.1",
"gene_symbol": "ENSG00000298307",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.325+6901C>T",
"hgvs_p": null
}
],
"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
}