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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: 2-43977271-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43977271&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43977271,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000260665.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "NM_133259.4",
"protein_id": "NP_573566.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1394,
"cds_start": 475,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": "ENST00000260665.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000260665.12",
"protein_id": "ENSP00000260665.7",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 1394,
"cds_start": 475,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": "NM_133259.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000447246.2",
"protein_id": "ENSP00000403637.2",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 837,
"cds_start": 475,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000409946.6",
"protein_id": "ENSP00000386234.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 531,
"cds_start": 475,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000683125.1",
"protein_id": "ENSP00000507939.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1430,
"cds_start": 475,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000683220.1",
"protein_id": "ENSP00000507151.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1404,
"cds_start": 475,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000682480.1",
"protein_id": "ENSP00000508344.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1400,
"cds_start": 475,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000683213.1",
"protein_id": "ENSP00000507751.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1395,
"cds_start": 475,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000682546.1",
"protein_id": "ENSP00000508188.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1393,
"cds_start": 475,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Val156Met",
"transcript": "ENST00000682779.1",
"protein_id": "ENSP00000507947.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1391,
"cds_start": 466,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000682885.1",
"protein_id": "ENSP00000508036.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 475,
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"cdna_start": 517,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "LRPPRC",
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"transcript": "ENST00000682308.1",
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"cds_start": 475,
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"cdna_start": 517,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "LRPPRC",
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"hgvs_c": "c.466G>A",
"hgvs_p": "p.Val156Met",
"transcript": "ENST00000683833.1",
"protein_id": "ENSP00000506852.1",
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"cds_start": 466,
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"cdna_start": 495,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "LRPPRC",
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},
{
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],
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"gene_symbol": "LRPPRC",
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"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000683590.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "LRPPRC",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000409659.6",
"protein_id": "ENSP00000386562.2",
"transcript_support_level": 5,
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"mane_select": null,
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"biotype": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "ENST00000682104.1",
"protein_id": "ENSP00000507716.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 795,
"cds_start": 349,
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"cdna_start": 413,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Val133Met",
"transcript": "XM_006711915.3",
"protein_id": "XP_006711978.1",
"transcript_support_level": null,
"aa_start": 133,
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Val117Met",
"transcript": "XM_047442809.1",
"protein_id": "XP_047298765.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "LRPPRC",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.89G>A",
"hgvs_p": null,
"transcript": "ENST00000681959.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"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": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.495G>A",
"hgvs_p": null,
"transcript": "ENST00000681961.1",
"protein_id": null,
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "LRPPRC",
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"transcript": "ENST00000684306.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "LRPPRC",
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"transcript": "ENST00000684383.1",
"protein_id": "ENSP00000506863.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.*347G>A",
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"transcript": "ENST00000684619.1",
"protein_id": "ENSP00000508088.1",
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_length": 5142,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"dbsnp": "rs1553411854",
"frequency_reference_population": 6.913583e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.91358e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2999041974544525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.1385,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.825,
"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": "ENST00000260665.12",
"gene_symbol": "LRPPRC",
"hgnc_id": 15714,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met"
}
],
"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
}