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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: 19-36101700-T-TCGCAGCCATCCACTCCCCAGCTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36101700&ref=T&alt=TCGCAGCCATCCACTCCCCAGCTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36101700,
"ref": "T",
"alt": "TCGCAGCCATCCACTCCCCAGCTC",
"effect": "frameshift_variant",
"transcript": "NM_001083961.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3012_3034dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1012fs",
"transcript": "NM_001083961.2",
"protein_id": "NP_001077430.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3035,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401500.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083961.2"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3012_3034dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1012fs",
"transcript": "ENST00000401500.7",
"protein_id": "ENSP00000384792.1",
"transcript_support_level": 1,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3035,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083961.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401500.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*2048_*2070dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": null,
"transcript": "ENST00000587391.6",
"protein_id": "ENSP00000465525.1",
"transcript_support_level": 1,
"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": "ENST00000587391.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*2048_*2070dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": null,
"transcript": "ENST00000587391.6",
"protein_id": "ENSP00000465525.1",
"transcript_support_level": 1,
"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": "ENST00000587391.6"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3006_3028dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1010fs",
"transcript": "ENST00000679714.1",
"protein_id": "ENSP00000506627.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1521,
"cds_start": 3029,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679714.1"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2997_3019dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1007fs",
"transcript": "NM_001411145.1",
"protein_id": "NP_001398074.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3020,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411145.1"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3012_3034dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1012fs",
"transcript": "NM_173636.5",
"protein_id": "NP_775907.4",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3035,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173636.5"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3012_3034dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1012fs",
"transcript": "ENST00000270301.12",
"protein_id": "ENSP00000270301.6",
"transcript_support_level": 5,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3035,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270301.12"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2997_3019dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1007fs",
"transcript": "ENST00000679682.1",
"protein_id": "ENSP00000506226.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3020,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679682.1"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3012_3034dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1012fs",
"transcript": "ENST00000680403.1",
"protein_id": "ENSP00000505677.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1434,
"cds_start": 3035,
"cds_end": null,
"cds_length": 4305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680403.1"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2661_2683dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro895fs",
"transcript": "NM_001411147.1",
"protein_id": "NP_001398076.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1406,
"cds_start": 2684,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411147.1"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2661_2683dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro895fs",
"transcript": "ENST00000679757.1",
"protein_id": "ENSP00000505158.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1406,
"cds_start": 2684,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679757.1"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.3012_3034dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1012fs",
"transcript": "XM_017026665.2",
"protein_id": "XP_016882154.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3035,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026665.2"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2997_3019dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1007fs",
"transcript": "XM_047438657.1",
"protein_id": "XP_047294613.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1513,
"cds_start": 3020,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438657.1"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2661_2683dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro895fs",
"transcript": "XM_047438662.1",
"protein_id": "XP_047294618.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2684,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438662.1"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.2004_2026dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro676fs",
"transcript": "XM_011526840.3",
"protein_id": "XP_011525142.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2027,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526840.3"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.1590_1612dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro538fs",
"transcript": "XM_011526841.3",
"protein_id": "XP_011525143.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 1049,
"cds_start": 1613,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526841.3"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.1443_1465dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro489fs",
"transcript": "XM_011526842.2",
"protein_id": "XP_011525144.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1466,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526842.2"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.759_781dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro261fs",
"transcript": "XM_011526843.2",
"protein_id": "XP_011525145.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 772,
"cds_start": 782,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526843.2"
},
{
"aa_ref": "P",
"aa_alt": "QPSTPQLR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.759_781dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro261fs",
"transcript": "XM_011526844.3",
"protein_id": "XP_011525146.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 772,
"cds_start": 782,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526844.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.-388_-366dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": null,
"transcript": "ENST00000680211.1",
"protein_id": "ENSP00000506102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680211.1"
},
{
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{
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],
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"exon_count": 32,
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"transcript": "ENST00000681625.1",
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},
{
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"consequences": [
"intron_variant"
],
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"exon_count": 31,
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"gene_symbol": "WDR62",
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"hgvs_c": "n.*1801-310_*1801-288dupAGCCATCCACTCCCCAGCTCCGC",
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"transcript": "ENST00000680806.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680806.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "WDR62",
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"hgvs_c": "n.-45_-44insCGCAGCCATCCACTCCCCAGCTC",
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"transcript": "ENST00000681608.1",
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681608.1"
}
],
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"dbsnp": "rs1555723585",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.771,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001083961.2",
"gene_symbol": "WDR62",
"hgnc_id": 24502,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3012_3034dupAGCCATCCACTCCCCAGCTCCGC",
"hgvs_p": "p.Pro1012fs"
}
],
"clinvar_disease": " autosomal recessive, primary, with or without cortical malformations,Microcephaly 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}