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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: X-40052350-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40052350&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40052350,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001123385.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "NM_001123385.2",
"protein_id": "NP_001116857.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378444.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123385.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "ENST00000378444.9",
"protein_id": "ENSP00000367705.4",
"transcript_support_level": 1,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001123385.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378444.9"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "ENST00000397354.7",
"protein_id": "ENSP00000380512.3",
"transcript_support_level": 1,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397354.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4871C>T",
"hgvs_p": "p.Ser1624Phe",
"transcript": "ENST00000378455.8",
"protein_id": "ENSP00000367716.4",
"transcript_support_level": 1,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1703,
"cds_start": 4871,
"cds_end": null,
"cds_length": 5112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378455.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "NM_001437510.1",
"protein_id": "NP_001424439.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437510.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "ENST00000406200.4",
"protein_id": "ENSP00000384485.3",
"transcript_support_level": 2,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406200.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "ENST00000615339.2",
"protein_id": "ENSP00000483217.2",
"transcript_support_level": 5,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615339.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "ENST00000672922.2",
"protein_id": "ENSP00000499892.2",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672922.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "ENST00000679513.1",
"protein_id": "ENSP00000505761.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679513.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "ENST00000680831.1",
"protein_id": "ENSP00000505507.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680831.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "ENST00000937654.1",
"protein_id": "ENSP00000607713.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937654.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe",
"transcript": "ENST00000937655.1",
"protein_id": "ENSP00000607714.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937655.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4973C>T",
"hgvs_p": "p.Ser1658Phe",
"transcript": "NM_001438207.1",
"protein_id": "NP_001425136.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1737,
"cds_start": 4973,
"cds_end": null,
"cds_length": 5214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438207.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4973C>T",
"hgvs_p": "p.Ser1658Phe",
"transcript": "ENST00000427012.3",
"protein_id": "ENSP00000403823.3",
"transcript_support_level": 5,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1737,
"cds_start": 4973,
"cds_end": null,
"cds_length": 5214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427012.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "NM_001123383.2",
"protein_id": "NP_001116855.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123383.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "NM_001438208.1",
"protein_id": "NP_001425137.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438208.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "NM_017745.6",
"protein_id": "NP_060215.4",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017745.6"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "ENST00000342274.8",
"protein_id": "ENSP00000345923.4",
"transcript_support_level": 5,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342274.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "ENST00000673391.1",
"protein_id": "ENSP00000500446.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673391.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "ENST00000937651.1",
"protein_id": "ENSP00000607710.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937651.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "ENST00000937653.1",
"protein_id": "ENSP00000607712.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937653.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4925C>T",
"hgvs_p": "p.Ser1642Phe",
"transcript": "ENST00000937656.1",
"protein_id": "ENSP00000607715.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4925,
"cds_end": null,
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"feature": "XM_047442225.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"biotype": "protein_coding",
"feature": "XM_047442226.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "BCOR",
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"transcript": "XM_047442227.1",
"protein_id": "XP_047298183.1",
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"biotype": "protein_coding",
"feature": "XM_047442227.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 14,
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"gene_symbol": "BCOR",
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"hgvs_c": "c.4871C>T",
"hgvs_p": "p.Ser1624Phe",
"transcript": "XM_047442228.1",
"protein_id": "XP_047298184.1",
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"biotype": "protein_coding",
"feature": "XM_047442228.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
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"exon_count": 15,
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"gene_symbol": "BCOR",
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"transcript": "NM_001437511.1",
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"biotype": "protein_coding",
"feature": "NM_001437511.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"gene_symbol": "BCOR",
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"transcript": "ENST00000442018.6",
"protein_id": "ENSP00000387552.2",
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"biotype": "protein_coding",
"feature": "ENST00000442018.6"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"gene_symbol": "BCOR",
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"hgvs_c": "n.1816C>T",
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"transcript": "ENST00000378463.5",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000378463.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "BCOR",
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"hgvs_c": "n.1152C>T",
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"transcript": "ENST00000672265.1",
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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,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000672265.1"
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],
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"dbsnp": "rs762748381",
"frequency_reference_population": 0.0000018219599,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000182196,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8350303769111633,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.637,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9768,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.406,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001123385.2",
"gene_symbol": "BCOR",
"hgnc_id": 20893,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ser1676Phe"
}
],
"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
}