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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: 2-200926799-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200926799&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200926799,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006190.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "NM_006190.5",
"protein_id": "NP_006181.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 577,
"cds_start": 1019,
"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": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "ENST00000234296.7",
"protein_id": "ENSP00000234296.2",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 577,
"cds_start": 1019,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.Asn360Ser",
"transcript": "ENST00000938732.1",
"protein_id": "ENSP00000608791.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 597,
"cds_start": 1079,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.Asn355Ser",
"transcript": "ENST00000879137.1",
"protein_id": "ENSP00000549196.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 592,
"cds_start": 1064,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "ENST00000879139.1",
"protein_id": "ENSP00000549198.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 577,
"cds_start": 1019,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "ENST00000938735.1",
"protein_id": "ENSP00000608794.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 577,
"cds_start": 1019,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "ENST00000938738.1",
"protein_id": "ENSP00000608797.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 577,
"cds_start": 1019,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "ENST00000938739.1",
"protein_id": "ENSP00000608798.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 577,
"cds_start": 1019,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Asn339Ser",
"transcript": "ENST00000938731.1",
"protein_id": "ENSP00000608790.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 576,
"cds_start": 1016,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.Asn338Ser",
"transcript": "ENST00000938734.1",
"protein_id": "ENSP00000608793.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 575,
"cds_start": 1013,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.968A>G",
"hgvs_p": "p.Asn323Ser",
"transcript": "ENST00000938737.1",
"protein_id": "ENSP00000608796.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 560,
"cds_start": 968,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "ENST00000938730.1",
"protein_id": "ENSP00000608789.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 555,
"cds_start": 1019,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Asn310Ser",
"transcript": "ENST00000879138.1",
"protein_id": "ENSP00000549197.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 547,
"cds_start": 929,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Asn309Ser",
"transcript": "ENST00000879136.1",
"protein_id": "ENSP00000549195.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 546,
"cds_start": 926,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Asn307Ser",
"transcript": "ENST00000938733.1",
"protein_id": "ENSP00000608792.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 544,
"cds_start": 920,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.926A>G",
"hgvs_p": "p.Asn309Ser",
"transcript": "ENST00000879135.1",
"protein_id": "ENSP00000549194.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 524,
"cds_start": 926,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Asn307Ser",
"transcript": "ENST00000938736.1",
"protein_id": "ENSP00000608795.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 522,
"cds_start": 920,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.Asn255Ser",
"transcript": "ENST00000879134.1",
"protein_id": "ENSP00000549193.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 492,
"cds_start": 764,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.Asn360Ser",
"transcript": "XM_011511252.4",
"protein_id": "XP_011509554.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 597,
"cds_start": 1079,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.Asn360Ser",
"transcript": "XM_011511253.4",
"protein_id": "XP_011509555.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 597,
"cds_start": 1079,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.Asn360Ser",
"transcript": "XM_047444568.1",
"protein_id": "XP_047300524.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 597,
"cds_start": 1079,
"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_047444568.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC2",
"gene_hgnc_id": 8488,
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Asn340Ser",
"transcript": "XM_006712555.5",
"protein_id": "XP_006712618.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 577,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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],
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{
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],
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},
{
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],
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{
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"non_coding_transcript_exon_variant"
],
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{
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],
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"gene_symbol": "ORC2",
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"biotype": "pseudogene",
"feature": "NR_033915.2"
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{
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"non_coding_transcript_exon_variant"
],
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"transcript": "XR_002959301.2",
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"biotype": "pseudogene",
"feature": "XR_002959301.2"
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],
"gene_symbol": "ORC2",
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"dbsnp": "rs201138399",
"frequency_reference_population": 0.00011772229,
"hom_count_reference_population": 0,
"allele_count_reference_population": 190,
"gnomad_exomes_af": 0.000123139,
"gnomad_genomes_af": 0.0000657022,
"gnomad_exomes_ac": 180,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9823088645935059,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.59,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1373,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.625,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006190.5",
"gene_symbol": "ORC2",
"hgnc_id": 8488,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1019A>G",
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],
"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
}