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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: 7-26371843-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=26371843&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 26371843,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001318198.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "NM_013322.3",
"protein_id": "NP_037454.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338523.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013322.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000338523.9",
"protein_id": "ENSP00000343709.5",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013322.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338523.9"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000396376.5",
"protein_id": "ENSP00000379661.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396376.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000446848.6",
"protein_id": "ENSP00000395474.3",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446848.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.82C>A",
"hgvs_p": "p.Leu28Ile",
"transcript": "ENST00000409838.1",
"protein_id": "ENSP00000386540.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 117,
"cds_start": 82,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "n.360C>A",
"hgvs_p": null,
"transcript": "ENST00000462993.1",
"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": "pseudogene",
"feature": "ENST00000462993.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.412C>A",
"hgvs_p": "p.Leu138Ile",
"transcript": "NM_001318198.1",
"protein_id": "NP_001305127.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 227,
"cds_start": 412,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318198.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.412C>A",
"hgvs_p": "p.Leu138Ile",
"transcript": "NM_001362753.1",
"protein_id": "NP_001349682.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 227,
"cds_start": 412,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362753.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.412C>A",
"hgvs_p": "p.Leu138Ile",
"transcript": "NM_001362754.1",
"protein_id": "NP_001349683.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 227,
"cds_start": 412,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362754.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Leu134Ile",
"transcript": "ENST00000698087.1",
"protein_id": "ENSP00000513557.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 223,
"cds_start": 400,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698087.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Leu134Ile",
"transcript": "ENST00000911861.1",
"protein_id": "ENSP00000581920.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 223,
"cds_start": 400,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911861.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "NM_001199835.1",
"protein_id": "NP_001186764.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199835.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "NM_001318199.3",
"protein_id": "NP_001305128.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318199.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000698078.1",
"protein_id": "ENSP00000513550.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698078.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000698079.1",
"protein_id": "ENSP00000513551.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698079.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000698080.1",
"protein_id": "ENSP00000513552.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698080.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000698088.1",
"protein_id": "ENSP00000513558.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698088.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000698090.1",
"protein_id": "ENSP00000513560.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698090.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000905668.1",
"protein_id": "ENSP00000575727.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905668.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000905669.1",
"protein_id": "ENSP00000575728.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905669.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000905670.1",
"protein_id": "ENSP00000575729.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905670.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Ile",
"transcript": "ENST00000905671.1",
"protein_id": "ENSP00000575730.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 201,
"cds_start": 334,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905671.1"
},
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "SNX10",
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"hgvs_c": "n.312-7C>A",
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"transcript": "ENST00000698086.1",
"protein_id": "ENSP00000513556.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698086.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "SNX10-AS1",
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"transcript": "ENST00000663469.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663469.1"
},
{
"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,
"intron_rank": null,
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"gene_symbol": "SNX10-AS1",
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"hgvs_c": "n.*176G>T",
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"transcript": "ENST00000451264.2",
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"transcript_support_level": 2,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000451264.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10-AS1",
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"hgvs_c": "n.*176G>T",
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"transcript": "ENST00000702153.2",
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000702153.2"
},
{
"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,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10-AS1",
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"hgvs_c": "n.*182G>T",
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"transcript": "ENST00000760565.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000760565.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10-AS1",
"gene_hgnc_id": 55845,
"hgvs_c": "n.*190G>T",
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"transcript": "ENST00000760566.1",
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"transcript_support_level": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000760566.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10-AS1",
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"hgvs_c": "n.*192G>T",
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"transcript": "ENST00000760567.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000760567.1"
},
{
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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,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX10-AS1",
"gene_hgnc_id": 55845,
"hgvs_c": "n.*176G>T",
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"transcript": "NR_136270.1",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "NR_136270.1"
},
{
"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,
"intron_rank": null,
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"gene_symbol": "SNX10-AS1",
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"hgvs_c": "n.*176G>T",
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"transcript": "NR_136271.1",
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"aa_length": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "NR_136271.1"
},
{
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"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": "SNX10-AS1",
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"hgvs_c": "n.*176G>T",
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"transcript": "NR_136272.1",
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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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136272.1"
}
],
"gene_symbol": "SNX10",
"gene_hgnc_id": 14974,
"dbsnp": "rs1335445324",
"frequency_reference_population": 0.000003100506,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 6.84503e-7,
"gnomad_genomes_af": 0.0000263633,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3543473184108734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.5536,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.22,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318198.1",
"gene_symbol": "SNX10",
"hgnc_id": 14974,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.412C>A",
"hgvs_p": "p.Leu138Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000656289.1",
"gene_symbol": "SNX10-AS1",
"hgnc_id": 55845,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.877G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}