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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: 3-136855689-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136855689&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 136855689,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025246.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "NM_025246.3",
"protein_id": "NP_079522.2",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446465.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025246.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000446465.3",
"protein_id": "ENSP00000400839.2",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025246.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446465.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000393079.3",
"protein_id": "ENSP00000376794.3",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393079.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "NM_001097599.2",
"protein_id": "NP_001091068.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001097599.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "NM_001097600.2",
"protein_id": "NP_001091069.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001097600.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000852766.1",
"protein_id": "ENSP00000522825.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852766.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000852767.1",
"protein_id": "ENSP00000522826.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852767.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000852768.1",
"protein_id": "ENSP00000522827.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852768.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000937922.1",
"protein_id": "ENSP00000607981.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937922.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000937923.1",
"protein_id": "ENSP00000607982.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937923.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000937924.1",
"protein_id": "ENSP00000607983.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937924.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000937925.1",
"protein_id": "ENSP00000607984.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937925.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000937926.1",
"protein_id": "ENSP00000607985.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937926.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "ENST00000956989.1",
"protein_id": "ENSP00000627048.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956989.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "XM_006713773.5",
"protein_id": "XP_006713836.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713773.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "XM_011513214.3",
"protein_id": "XP_011511516.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513214.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "XM_017007289.2",
"protein_id": "XP_016862778.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007289.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "XM_017007290.2",
"protein_id": "XP_016862779.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007290.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "XM_017007291.2",
"protein_id": "XP_016862780.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007291.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu",
"transcript": "XM_047449027.1",
"protein_id": "XP_047304983.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 412,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449027.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCK1-DT",
"gene_hgnc_id": 49645,
"hgvs_c": "n.338+6058G>A",
"hgvs_p": null,
"transcript": "ENST00000461864.8",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000461864.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCK1-DT",
"gene_hgnc_id": 49645,
"hgvs_c": "n.440+5926G>A",
"hgvs_p": null,
"transcript": "ENST00000470236.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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"cds_length": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000762167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NCK1-DT",
"gene_hgnc_id": 49645,
"hgvs_c": "n.325+6058G>A",
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"transcript": "ENST00000762168.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_end": null,
"aa_length": null,
"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": "ENST00000762168.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "NCK1-DT",
"gene_hgnc_id": 49645,
"hgvs_c": "n.403+2829G>A",
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"transcript": "NR_110175.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_110175.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "NCK1-DT",
"gene_hgnc_id": 49645,
"hgvs_c": "n.449+5926G>A",
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"transcript": "NR_110176.1",
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"transcript_support_level": null,
"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": "NR_110176.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "NCK1-DT",
"gene_hgnc_id": 49645,
"hgvs_c": "n.317+6058G>A",
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"transcript": "NR_110177.1",
"protein_id": null,
"transcript_support_level": null,
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"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": "NR_110177.1"
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],
"gene_symbol": "SLC35G2",
"gene_hgnc_id": 28480,
"dbsnp": "rs760671370",
"frequency_reference_population": 0.000040796345,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000409193,
"gnomad_genomes_af": 0.0000396259,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2333662509918213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.4545,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.514,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_025246.3",
"gene_symbol": "SLC35G2",
"hgnc_id": 28480,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1229C>T",
"hgvs_p": "p.Pro410Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000461864.8",
"gene_symbol": "NCK1-DT",
"hgnc_id": 49645,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.338+6058G>A",
"hgvs_p": null
}
],
"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
}