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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: 2-200913309-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200913309&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200913309,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006190.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val",
"transcript": "NM_006190.5",
"protein_id": "NP_006181.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234296.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006190.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val",
"transcript": "ENST00000234296.7",
"protein_id": "ENSP00000234296.2",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006190.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234296.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1693A>G",
"hgvs_p": "p.Ile565Val",
"transcript": "ENST00000938732.1",
"protein_id": "ENSP00000608791.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 597,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938732.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1678A>G",
"hgvs_p": "p.Ile560Val",
"transcript": "ENST00000879137.1",
"protein_id": "ENSP00000549196.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 592,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879137.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val",
"transcript": "ENST00000879139.1",
"protein_id": "ENSP00000549198.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879139.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val",
"transcript": "ENST00000938735.1",
"protein_id": "ENSP00000608794.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938735.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val",
"transcript": "ENST00000938738.1",
"protein_id": "ENSP00000608797.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938738.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val",
"transcript": "ENST00000938739.1",
"protein_id": "ENSP00000608798.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 577,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938739.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1630A>G",
"hgvs_p": "p.Ile544Val",
"transcript": "ENST00000938731.1",
"protein_id": "ENSP00000608790.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 576,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938731.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1627A>G",
"hgvs_p": "p.Ile543Val",
"transcript": "ENST00000938734.1",
"protein_id": "ENSP00000608793.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 575,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938734.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Ile528Val",
"transcript": "ENST00000938737.1",
"protein_id": "ENSP00000608796.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 560,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938737.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Ile523Val",
"transcript": "ENST00000938730.1",
"protein_id": "ENSP00000608789.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 555,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938730.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1552A>G",
"hgvs_p": "p.Ile518Val",
"transcript": "ENST00000938740.1",
"protein_id": "ENSP00000608799.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 550,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938740.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1543A>G",
"hgvs_p": "p.Ile515Val",
"transcript": "ENST00000879138.1",
"protein_id": "ENSP00000549197.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 547,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879138.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1540A>G",
"hgvs_p": "p.Ile514Val",
"transcript": "ENST00000879136.1",
"protein_id": "ENSP00000549195.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 546,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879136.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1534A>G",
"hgvs_p": "p.Ile512Val",
"transcript": "ENST00000938733.1",
"protein_id": "ENSP00000608792.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 544,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938733.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1474A>G",
"hgvs_p": "p.Ile492Val",
"transcript": "ENST00000879135.1",
"protein_id": "ENSP00000549194.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 524,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879135.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1468A>G",
"hgvs_p": "p.Ile490Val",
"transcript": "ENST00000938736.1",
"protein_id": "ENSP00000608795.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 522,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938736.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1378A>G",
"hgvs_p": "p.Ile460Val",
"transcript": "ENST00000879134.1",
"protein_id": "ENSP00000549193.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 492,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879134.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1693A>G",
"hgvs_p": "p.Ile565Val",
"transcript": "XM_011511252.4",
"protein_id": "XP_011509554.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 597,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511252.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1693A>G",
"hgvs_p": "p.Ile565Val",
"transcript": "XM_011511253.4",
"protein_id": "XP_011509555.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 597,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511253.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1693A>G",
"hgvs_p": "p.Ile565Val",
"transcript": "XM_047444568.1",
"protein_id": "XP_047300524.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 597,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047444568.1"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 17,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ORC2",
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"hgvs_p": "p.Ile545Val",
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"biotype": "protein_coding",
"feature": "XM_006712555.5"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ORC2",
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"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val",
"transcript": "XM_047444569.1",
"protein_id": "XP_047300525.1",
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"biotype": "protein_coding",
"feature": "XM_047444569.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 6,
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"gene_symbol": "ORC2",
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"hgvs_c": "n.1237A>G",
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"transcript": "ENST00000464147.1",
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"biotype": "retained_intron",
"feature": "ENST00000464147.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
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"exon_count": 17,
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"gene_symbol": "ORC2",
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"hgvs_c": "n.2380A>G",
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"transcript": "NR_033915.2",
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"aa_end": null,
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"cds_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033915.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
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"exon_count": 17,
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"intron_rank_end": null,
"gene_symbol": "ORC2",
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"hgvs_c": "n.1966A>G",
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"transcript": "XR_002959301.2",
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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": "XR_002959301.2"
}
],
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"dbsnp": "rs370669334",
"frequency_reference_population": 0.000004155194,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000415519,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3874897360801697,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.1365,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.178,
"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_006190.5",
"gene_symbol": "ORC2",
"hgnc_id": 8488,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1633A>G",
"hgvs_p": "p.Ile545Val"
}
],
"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
}