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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: 3-20174877-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=20174877&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 20174877,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001012410.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "NM_001199251.3",
"protein_id": "NP_001186180.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 527,
"cds_start": 654,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000412997.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199251.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "ENST00000412997.6",
"protein_id": "ENSP00000410458.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 527,
"cds_start": 654,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199251.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412997.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "ENST00000263753.8",
"protein_id": "ENSP00000263753.4",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 561,
"cds_start": 654,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263753.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "ENST00000421451.5",
"protein_id": "ENSP00000414129.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 561,
"cds_start": 654,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421451.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.526+128G>A",
"hgvs_p": null,
"transcript": "ENST00000419233.6",
"protein_id": "ENSP00000394625.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419233.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.526+128G>A",
"hgvs_p": null,
"transcript": "ENST00000425061.5",
"protein_id": "ENSP00000414960.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425061.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.475+1724G>A",
"hgvs_p": null,
"transcript": "ENST00000306698.6",
"protein_id": "ENSP00000306581.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306698.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.475+1724G>A",
"hgvs_p": null,
"transcript": "ENST00000452020.5",
"protein_id": "ENSP00000411200.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452020.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.526+128G>A",
"hgvs_p": null,
"transcript": "ENST00000417364.1",
"protein_id": "ENSP00000394613.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417364.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.526+128G>A",
"hgvs_p": null,
"transcript": "ENST00000437051.5",
"protein_id": "ENSP00000389034.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437051.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.475+1724G>A",
"hgvs_p": null,
"transcript": "ENST00000442720.5",
"protein_id": "ENSP00000394957.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442720.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.526+128G>A",
"hgvs_p": null,
"transcript": "ENST00000443724.5",
"protein_id": "ENSP00000413070.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443724.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "NM_001012410.5",
"protein_id": "NP_001012410.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 561,
"cds_start": 654,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012410.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "NM_001199252.3",
"protein_id": "NP_001186181.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 561,
"cds_start": 654,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199252.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "NM_001012409.4",
"protein_id": "NP_001012409.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 527,
"cds_start": 654,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012409.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "ENST00000860145.1",
"protein_id": "ENSP00000530204.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 527,
"cds_start": 654,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860145.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "ENST00000924915.1",
"protein_id": "ENSP00000594974.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 527,
"cds_start": 654,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924915.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "ENST00000924917.1",
"protein_id": "ENSP00000594976.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 527,
"cds_start": 654,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924917.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "ENST00000924921.1",
"protein_id": "ENSP00000594980.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 527,
"cds_start": 654,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924921.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "XM_011533373.3",
"protein_id": "XP_011531675.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 561,
"cds_start": 654,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533373.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "XM_011533375.3",
"protein_id": "XP_011531677.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 561,
"cds_start": 654,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533375.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"transcript": "XM_011533376.3",
"protein_id": "XP_011531678.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 561,
"cds_start": 654,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533376.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
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"transcript_support_level": 4,
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"aa_end": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000441442.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "SGO1-AS1",
"gene_hgnc_id": 41081,
"hgvs_c": "n.366+59C>T",
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"transcript": "ENST00000448208.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000448208.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "SGO1",
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"hgvs_c": "n.484+128G>A",
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"transcript": "NR_131179.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_length": null,
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"biotype": "pseudogene",
"feature": "NR_131179.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"hgvs_c": "n.433+1724G>A",
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"transcript": "NR_131180.2",
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "NR_131180.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "SGO1-AS1",
"gene_hgnc_id": 41081,
"hgvs_c": "n.324+59C>T",
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"transcript": "NR_132785.1",
"protein_id": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_132785.1"
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],
"gene_symbol": "SGO1",
"gene_hgnc_id": 25088,
"dbsnp": "rs35175566",
"frequency_reference_population": 0.000561953,
"hom_count_reference_population": 2,
"allele_count_reference_population": 907,
"gnomad_exomes_af": 0.000324956,
"gnomad_genomes_af": 0.00283692,
"gnomad_exomes_ac": 475,
"gnomad_genomes_ac": 432,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.299,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001012410.5",
"gene_symbol": "SGO1",
"hgnc_id": 25088,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000448208.5",
"gene_symbol": "SGO1-AS1",
"hgnc_id": 41081,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.366+59C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}