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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: 20-429032-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=429032&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 429032,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000356286.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1390C>G",
"hgvs_p": "p.Arg464Gly",
"transcript": "NM_031229.4",
"protein_id": "NP_112506.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 510,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "ENST00000356286.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1390C>G",
"hgvs_p": "p.Arg464Gly",
"transcript": "ENST00000356286.10",
"protein_id": "ENSP00000348632.6",
"transcript_support_level": 1,
"aa_start": 464,
"aa_end": null,
"aa_length": 510,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": "NM_031229.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1264C>G",
"hgvs_p": "p.Arg422Gly",
"transcript": "ENST00000353660.7",
"protein_id": "ENSP00000254960.5",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 468,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 2511,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*410C>G",
"hgvs_p": null,
"transcript": "ENST00000382181.2",
"protein_id": "ENSP00000371616.3",
"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": 2208,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*354C>G",
"hgvs_p": null,
"transcript": "ENST00000382214.7",
"protein_id": "ENSP00000371649.3",
"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": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*410C>G",
"hgvs_p": null,
"transcript": "ENST00000382181.2",
"protein_id": "ENSP00000371616.3",
"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": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*354C>G",
"hgvs_p": null,
"transcript": "ENST00000382214.7",
"protein_id": "ENSP00000371649.3",
"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": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1441C>G",
"hgvs_p": "p.Arg481Gly",
"transcript": "NM_001410770.1",
"protein_id": "NP_001397699.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 527,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1441C>G",
"hgvs_p": "p.Arg481Gly",
"transcript": "ENST00000697805.1",
"protein_id": "ENSP00000513446.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 527,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1264C>G",
"hgvs_p": "p.Arg422Gly",
"transcript": "NM_006462.6",
"protein_id": "NP_006453.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 468,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Arg294Gly",
"transcript": "NM_001323956.2",
"protein_id": "NP_001310885.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 340,
"cds_start": 880,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.Arg294Gly",
"transcript": "NM_001323958.2",
"protein_id": "NP_001310887.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 340,
"cds_start": 880,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1564C>G",
"hgvs_p": "p.Arg522Gly",
"transcript": "XM_011529137.3",
"protein_id": "XP_011527439.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 568,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "c.1513C>G",
"hgvs_p": "p.Arg505Gly",
"transcript": "XM_011529138.2",
"protein_id": "XP_011527440.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 551,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 3824,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*410C>G",
"hgvs_p": null,
"transcript": "ENST00000415942.5",
"protein_id": "ENSP00000405288.1",
"transcript_support_level": 5,
"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": 2613,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.1774C>G",
"hgvs_p": null,
"transcript": "ENST00000468272.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 2416,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.1214C>G",
"hgvs_p": null,
"transcript": "ENST00000621487.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1861,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.*301C>G",
"hgvs_p": null,
"transcript": "ENST00000697804.1",
"protein_id": "ENSP00000513444.1",
"transcript_support_level": null,
"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": 2671,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.2460C>G",
"hgvs_p": null,
"transcript": "ENST00000697807.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3125,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.1175C>G",
"hgvs_p": null,
"transcript": "ENST00000697808.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1822,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.1175C>G",
"hgvs_p": null,
"transcript": "ENST00000697809.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3097,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.2163C>G",
"hgvs_p": null,
"transcript": "ENST00000697810.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2814,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"hgvs_c": "n.1824C>G",
"hgvs_p": null,
"transcript": "NR_136659.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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},
{
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"canonical": false,
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],
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"transcript": "ENST00000415942.5",
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},
{
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],
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"transcript": "ENST00000697804.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
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"gene_symbol": "TBC1D20",
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},
{
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"protein_coding": true,
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"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "RBCK1",
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"hgvs_c": "c.*78C>G",
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"transcript": "XM_011529139.4",
"protein_id": "XP_011527441.1",
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}
],
"gene_symbol": "RBCK1",
"gene_hgnc_id": 15864,
"dbsnp": "rs145423115",
"frequency_reference_population": 0.0000018605666,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000013695,
"gnomad_genomes_af": 0.00000657808,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7584748268127441,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.647,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7195,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.858,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000356286.10",
"gene_symbol": "RBCK1",
"hgnc_id": 15864,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1390C>G",
"hgvs_p": "p.Arg464Gly"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000680792.1",
"gene_symbol": "TBC1D20",
"hgnc_id": 16133,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*196-4758G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Polyglucosan body myopathy type 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Polyglucosan body myopathy type 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}