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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: 20-63940847-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63940847&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63940847,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353475.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Ile",
"transcript": "NM_017859.4",
"protein_id": "NP_060329.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 548,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354216.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017859.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Ile",
"transcript": "ENST00000354216.11",
"protein_id": "ENSP00000346155.6",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 548,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017859.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354216.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Val386Ile",
"transcript": "ENST00000883271.1",
"protein_id": "ENSP00000553330.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 558,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883271.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Val385Ile",
"transcript": "ENST00000969434.1",
"protein_id": "ENSP00000639493.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 557,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969434.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Val385Ile",
"transcript": "ENST00000969439.1",
"protein_id": "ENSP00000639498.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 557,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969439.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Val384Ile",
"transcript": "ENST00000969436.1",
"protein_id": "ENSP00000639495.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 556,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969436.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Val384Ile",
"transcript": "ENST00000969437.1",
"protein_id": "ENSP00000639496.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 556,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969437.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "ENST00000969435.1",
"protein_id": "ENSP00000639494.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 555,
"cds_start": 1147,
"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": "ENST00000969435.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Val378Ile",
"transcript": "ENST00000883267.1",
"protein_id": "ENSP00000553326.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 550,
"cds_start": 1132,
"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": "ENST00000883267.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Val377Ile",
"transcript": "NM_001353475.2",
"protein_id": "NP_001340404.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 549,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353475.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Val377Ile",
"transcript": "ENST00000883268.1",
"protein_id": "ENSP00000553327.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 549,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883268.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Val377Ile",
"transcript": "ENST00000883269.1",
"protein_id": "ENSP00000553328.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 549,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883269.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Ile",
"transcript": "NM_001353476.2",
"protein_id": "NP_001340405.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 548,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353476.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Ile",
"transcript": "ENST00000883270.1",
"protein_id": "ENSP00000553329.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 548,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883270.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Val375Ile",
"transcript": "NM_001353477.2",
"protein_id": "NP_001340406.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 547,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353477.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Val375Ile",
"transcript": "ENST00000969433.1",
"protein_id": "ENSP00000639492.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 547,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969433.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Val373Ile",
"transcript": "ENST00000969438.1",
"protein_id": "ENSP00000639497.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 545,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969438.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"transcript": "ENST00000969443.1",
"protein_id": "ENSP00000639502.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 544,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969443.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Ile",
"transcript": "ENST00000969440.1",
"protein_id": "ENSP00000639499.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 543,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969440.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Ile",
"transcript": "ENST00000969441.1",
"protein_id": "ENSP00000639500.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 542,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969441.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Ile",
"transcript": "ENST00000969448.1",
"protein_id": "ENSP00000639507.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 542,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969448.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "UCKL1",
"gene_hgnc_id": 15938,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Ile",
"transcript": "ENST00000969450.1",
"protein_id": "ENSP00000639509.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 540,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
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],
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"biotype": "pseudogene",
"feature": "NR_148442.2"
},
{
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"protein_coding": true,
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"biotype": "protein_coding",
"feature": "XM_047440240.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 11,
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"biotype": "protein_coding",
"feature": "XM_047440241.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "UCKL1",
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"biotype": "protein_coding",
"feature": "XM_047440242.1"
},
{
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
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"gene_symbol": "UCKL1",
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"biotype": "pseudogene",
"feature": "XR_007067459.1"
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{
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"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 10,
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"gene_symbol": "UCKL1",
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"biotype": "pseudogene",
"feature": "XR_007067460.1"
},
{
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 10,
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"gene_symbol": "UCKL1",
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"hgvs_c": "n.*179G>A",
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"transcript": "XR_007067461.1",
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"biotype": "pseudogene",
"feature": "XR_007067461.1"
}
],
"gene_symbol": "UCKL1",
"gene_hgnc_id": 15938,
"dbsnp": "rs771794643",
"frequency_reference_population": 0.000007752549,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000716518,
"gnomad_genomes_af": 0.0000131372,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09701725840568542,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0989,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.77,
"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_001353475.2",
"gene_symbol": "UCKL1",
"hgnc_id": 15938,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Val377Ile"
}
],
"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
}