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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: 11-47260636-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47260636&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47260636,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000441012.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_005693.4",
"protein_id": "NP_005684.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 447,
"cds_start": 460,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": "ENST00000441012.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000441012.7",
"protein_id": "ENSP00000387946.2",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 447,
"cds_start": 460,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": "NM_005693.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "ENST00000616973.4",
"protein_id": "ENSP00000477707.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 453,
"cds_start": 478,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000467728.5",
"protein_id": "ENSP00000420656.1",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 447,
"cds_start": 460,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Arg109Trp",
"transcript": "ENST00000395397.7",
"protein_id": "ENSP00000378793.3",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 402,
"cds_start": 325,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000405853.7",
"protein_id": "ENSP00000384745.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 387,
"cds_start": 460,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.699C>T",
"hgvs_p": null,
"transcript": "ENST00000527464.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Arg109Trp",
"transcript": "ENST00000481889.6",
"protein_id": "ENSP00000433271.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 466,
"cds_start": 325,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "NM_001251934.2",
"protein_id": "NP_001238863.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 453,
"cds_start": 478,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Trp",
"transcript": "NM_001251935.2",
"protein_id": "NP_001238864.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 453,
"cds_start": 478,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Arg109Trp",
"transcript": "NM_001130102.3",
"protein_id": "NP_001123574.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 402,
"cds_start": 325,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "NM_001130101.3",
"protein_id": "NP_001123573.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 387,
"cds_start": 460,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000407404.5",
"protein_id": "ENSP00000385801.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 387,
"cds_start": 460,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Arg109Trp",
"transcript": "NM_001363595.2",
"protein_id": "NP_001350524.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 342,
"cds_start": 325,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Arg109Trp",
"transcript": "ENST00000405576.5",
"protein_id": "ENSP00000385073.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 342,
"cds_start": 325,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.187C>T",
"hgvs_p": "p.Arg63Trp",
"transcript": "ENST00000527949.1",
"protein_id": "ENSP00000432073.1",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 296,
"cds_start": 187,
"cds_end": null,
"cds_length": 891,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000436029.5",
"protein_id": "ENSP00000403696.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 211,
"cds_start": 460,
"cds_end": null,
"cds_length": 636,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000449369.5",
"protein_id": "ENSP00000415591.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 204,
"cds_start": 460,
"cds_end": null,
"cds_length": 615,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000436778.5",
"protein_id": "ENSP00000403798.1",
"transcript_support_level": 3,
"aa_start": 154,
"aa_end": null,
"aa_length": 201,
"cds_start": 460,
"cds_end": null,
"cds_length": 606,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "ENST00000444396.5",
"protein_id": "ENSP00000391005.1",
"transcript_support_level": 3,
"aa_start": 154,
"aa_end": null,
"aa_length": 192,
"cds_start": 460,
"cds_end": null,
"cds_length": 581,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Arg109Trp",
"transcript": "ENST00000412937.5",
"protein_id": "ENSP00000412636.1",
"transcript_support_level": 4,
"aa_start": 109,
"aa_end": null,
"aa_length": 133,
"cds_start": 325,
"cds_end": null,
"cds_length": 404,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "XM_005252706.2",
"protein_id": "XP_005252763.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 447,
"cds_start": 460,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp",
"transcript": "XM_011519805.3",
"protein_id": "XP_011518107.1",
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"cdna_length": 1505,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"transcript": "ENST00000473222.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "NR1H3",
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"hgvs_c": "n.*49C>T",
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"transcript": "ENST00000483882.1",
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H3",
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"hgvs_c": "n.*130C>T",
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"transcript": "ENST00000495866.5",
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"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_length": 569,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"hgvs_c": "n.*20C>T",
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"transcript": "ENST00000530310.1",
"protein_id": null,
"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 542,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "NR1H3",
"gene_hgnc_id": 7966,
"dbsnp": "rs1198959252",
"frequency_reference_population": 0.000013045974,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000123503,
"gnomad_genomes_af": 0.0000197062,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9729630351066589,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.959,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"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": "PP3_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441012.7",
"gene_symbol": "NR1H3",
"hgnc_id": 7966,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Trp"
}
],
"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
}