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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: 11-3683371-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3683371&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3683371,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365125.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4747G>A",
"hgvs_p": "p.Ala1583Thr",
"transcript": "NM_016320.5",
"protein_id": "NP_057404.2",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4747,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324932.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016320.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4747G>A",
"hgvs_p": "p.Ala1583Thr",
"transcript": "ENST00000324932.12",
"protein_id": "ENSP00000316032.7",
"transcript_support_level": 1,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4747,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016320.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324932.12"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Ala535Thr",
"transcript": "ENST00000429801.5",
"protein_id": "ENSP00000413146.1",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 752,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429801.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4891G>A",
"hgvs_p": "p.Ala1631Thr",
"transcript": "ENST00000915300.1",
"protein_id": "ENSP00000585359.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1848,
"cds_start": 4891,
"cds_end": null,
"cds_length": 5547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915300.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Ala1614Thr",
"transcript": "NM_001365125.2",
"protein_id": "NP_001352054.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1831,
"cds_start": 4840,
"cds_end": null,
"cds_length": 5496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365125.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Ala1614Thr",
"transcript": "ENST00000915302.1",
"protein_id": "ENSP00000585361.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1831,
"cds_start": 4840,
"cds_end": null,
"cds_length": 5496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915302.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4813G>A",
"hgvs_p": "p.Ala1605Thr",
"transcript": "ENST00000915311.1",
"protein_id": "ENSP00000585370.1",
"transcript_support_level": null,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1822,
"cds_start": 4813,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915311.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4798G>A",
"hgvs_p": "p.Ala1600Thr",
"transcript": "NM_001365126.2",
"protein_id": "NP_001352055.1",
"transcript_support_level": null,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1817,
"cds_start": 4798,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365126.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4798G>A",
"hgvs_p": "p.Ala1600Thr",
"transcript": "ENST00000359171.8",
"protein_id": "ENSP00000352091.5",
"transcript_support_level": 5,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1817,
"cds_start": 4798,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359171.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4798G>A",
"hgvs_p": "p.Ala1600Thr",
"transcript": "ENST00000915310.1",
"protein_id": "ENSP00000585369.1",
"transcript_support_level": null,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1817,
"cds_start": 4798,
"cds_end": null,
"cds_length": 5454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915310.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4792G>A",
"hgvs_p": "p.Ala1598Thr",
"transcript": "ENST00000943238.1",
"protein_id": "ENSP00000613297.1",
"transcript_support_level": null,
"aa_start": 1598,
"aa_end": null,
"aa_length": 1815,
"cds_start": 4792,
"cds_end": null,
"cds_length": 5448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943238.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4771G>A",
"hgvs_p": "p.Ala1591Thr",
"transcript": "ENST00000915303.1",
"protein_id": "ENSP00000585362.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4771,
"cds_end": null,
"cds_length": 5427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915303.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4747G>A",
"hgvs_p": "p.Ala1583Thr",
"transcript": "ENST00000851290.1",
"protein_id": "ENSP00000521349.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4747,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851290.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4747G>A",
"hgvs_p": "p.Ala1583Thr",
"transcript": "ENST00000915312.1",
"protein_id": "ENSP00000585371.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4747,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915312.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4747G>A",
"hgvs_p": "p.Ala1583Thr",
"transcript": "ENST00000915314.1",
"protein_id": "ENSP00000585373.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4747,
"cds_end": null,
"cds_length": 5403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915314.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4723G>A",
"hgvs_p": "p.Ala1575Thr",
"transcript": "NM_001365127.2",
"protein_id": "NP_001352056.1",
"transcript_support_level": null,
"aa_start": 1575,
"aa_end": null,
"aa_length": 1792,
"cds_start": 4723,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365127.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4723G>A",
"hgvs_p": "p.Ala1575Thr",
"transcript": "ENST00000527104.6",
"protein_id": "ENSP00000436226.2",
"transcript_support_level": 3,
"aa_start": 1575,
"aa_end": null,
"aa_length": 1792,
"cds_start": 4723,
"cds_end": null,
"cds_length": 5379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527104.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4720G>A",
"hgvs_p": "p.Ala1574Thr",
"transcript": "ENST00000700597.1",
"protein_id": "ENSP00000515087.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4720,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700597.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4699G>A",
"hgvs_p": "p.Ala1567Thr",
"transcript": "ENST00000915306.1",
"protein_id": "ENSP00000585365.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4699,
"cds_end": null,
"cds_length": 5355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915306.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4696G>A",
"hgvs_p": "p.Ala1566Thr",
"transcript": "NM_001365128.2",
"protein_id": "NP_001352057.1",
"transcript_support_level": null,
"aa_start": 1566,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4696,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365128.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4696G>A",
"hgvs_p": "p.Ala1566Thr",
"transcript": "ENST00000700598.1",
"protein_id": "ENSP00000515088.1",
"transcript_support_level": null,
"aa_start": 1566,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4696,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700598.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "c.4657G>A",
"hgvs_p": "p.Ala1553Thr",
"transcript": "ENST00000915305.1",
"protein_id": "ENSP00000585364.1",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4657,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700601.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 32,
"intron_rank": null,
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"transcript": "ENST00000700602.1",
"protein_id": "ENSP00000515091.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700602.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "NUP98",
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"hgvs_c": "n.4930G>A",
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"transcript": "NR_157589.2",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157589.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "NUP98",
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"transcript": "NR_157590.2",
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157590.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 32,
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"gene_symbol": "NUP98",
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"hgvs_c": "n.4973G>A",
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"transcript": "NR_157591.1",
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"biotype": "pseudogene",
"feature": "NR_157591.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
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"exon_count": 32,
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"gene_symbol": "NUP98",
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"hgvs_c": "n.*968G>A",
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"transcript": "ENST00000529063.2",
"protein_id": "ENSP00000433226.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529063.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"hgvs_c": "n.*816G>A",
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"transcript": "ENST00000650171.1",
"protein_id": "ENSP00000497709.1",
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650171.1"
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],
"gene_symbol": "NUP98",
"gene_hgnc_id": 8068,
"dbsnp": "rs201879606",
"frequency_reference_population": 0.000012391343,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000109447,
"gnomad_genomes_af": 0.0000262916,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17093488574028015,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.0855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.307,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001365125.2",
"gene_symbol": "NUP98",
"hgnc_id": 8068,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Ala1614Thr"
}
],
"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
}