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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: 7-93291827-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=93291827&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 93291827,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017667.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ser356Leu",
"transcript": "NM_017667.4",
"protein_id": "NP_060137.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 964,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305866.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017667.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ser356Leu",
"transcript": "ENST00000305866.10",
"protein_id": "ENSP00000307666.5",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 964,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017667.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305866.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "n.*840C>T",
"hgvs_p": null,
"transcript": "ENST00000441602.5",
"protein_id": "ENSP00000415809.1",
"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": "ENST00000441602.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "n.775C>T",
"hgvs_p": null,
"transcript": "ENST00000471188.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000471188.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "n.*840C>T",
"hgvs_p": null,
"transcript": "ENST00000441602.5",
"protein_id": "ENSP00000415809.1",
"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": "ENST00000441602.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1226C>T",
"hgvs_p": "p.Ser409Leu",
"transcript": "ENST00000963425.1",
"protein_id": "ENSP00000633484.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1226,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963425.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ser356Leu",
"transcript": "ENST00000869630.1",
"protein_id": "ENSP00000539689.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 972,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869630.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ser356Leu",
"transcript": "ENST00000869628.1",
"protein_id": "ENSP00000539687.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 963,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869628.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1064C>T",
"hgvs_p": "p.Ser355Leu",
"transcript": "ENST00000920042.1",
"protein_id": "ENSP00000590101.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 963,
"cds_start": 1064,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920042.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Ser344Leu",
"transcript": "ENST00000963424.1",
"protein_id": "ENSP00000633483.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 952,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963424.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ser356Leu",
"transcript": "ENST00000869629.1",
"protein_id": "ENSP00000539688.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 937,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869629.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Ser326Leu",
"transcript": "NM_001257998.2",
"protein_id": "NP_001244927.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 934,
"cds_start": 977,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257998.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Ser326Leu",
"transcript": "ENST00000544910.5",
"protein_id": "ENSP00000443104.1",
"transcript_support_level": 2,
"aa_start": 326,
"aa_end": null,
"aa_length": 934,
"cds_start": 977,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544910.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "ENST00000869632.1",
"protein_id": "ENSP00000539691.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 931,
"cds_start": 968,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869632.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.944C>T",
"hgvs_p": "p.Ser315Leu",
"transcript": "ENST00000869631.1",
"protein_id": "ENSP00000539690.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 923,
"cds_start": 944,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869631.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ser356Leu",
"transcript": "ENST00000963423.1",
"protein_id": "ENSP00000633482.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 905,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963423.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1013C>T",
"hgvs_p": "p.Ser338Leu",
"transcript": "ENST00000963427.1",
"protein_id": "ENSP00000633486.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 887,
"cds_start": 1013,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963427.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ser356Leu",
"transcript": "ENST00000963426.1",
"protein_id": "ENSP00000633485.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 838,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963426.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Leu",
"transcript": "ENST00000869633.1",
"protein_id": "ENSP00000539692.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 684,
"cds_start": 227,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869633.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ser142Leu",
"transcript": "ENST00000458707.1",
"protein_id": "ENSP00000414450.1",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 468,
"cds_start": 425,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458707.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ser167Leu",
"transcript": "XM_011516395.3",
"protein_id": "XP_011514697.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 775,
"cds_start": 500,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516395.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Ser87Leu",
"transcript": "XM_024446826.2",
"protein_id": "XP_024302594.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 695,
"cds_start": 260,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_024446826.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 21,
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"gene_symbol": "VPS50",
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"transcript": "XM_011516396.4",
"protein_id": "XP_011514698.1",
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"aa_start": 356,
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"aa_length": 682,
"cds_start": 1067,
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"cds_length": 2049,
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"biotype": "protein_coding",
"feature": "XM_011516396.4"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "VPS50",
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"hgvs_c": "c.1067C>T",
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"transcript": "XM_047420601.1",
"protein_id": "XP_047276557.1",
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"aa_length": 491,
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"biotype": "protein_coding",
"feature": "XM_047420601.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 5,
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"gene_symbol": "VPS50",
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"hgvs_c": "n.562C>T",
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"transcript": "ENST00000484954.1",
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484954.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
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"exon_count": 29,
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"gene_symbol": "VPS50",
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"hgvs_c": "n.*990C>T",
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"transcript": "ENST00000649152.1",
"protein_id": "ENSP00000496891.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649152.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 29,
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"gene_symbol": "VPS50",
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"transcript": "ENST00000649152.1",
"protein_id": "ENSP00000496891.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649152.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "VPS50",
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"hgvs_c": "n.*31C>T",
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"transcript": "ENST00000485140.1",
"protein_id": null,
"transcript_support_level": 4,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485140.1"
}
],
"gene_symbol": "VPS50",
"gene_hgnc_id": 25956,
"dbsnp": "rs199896068",
"frequency_reference_population": 0.000067747074,
"hom_count_reference_population": 0,
"allele_count_reference_population": 107,
"gnomad_exomes_af": 0.0000742633,
"gnomad_genomes_af": 0.00000657678,
"gnomad_exomes_ac": 106,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10558006167411804,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.0562,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.47,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_017667.4",
"gene_symbol": "VPS50",
"hgnc_id": 25956,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Ser356Leu"
}
],
"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
}