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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: 9-35065363-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35065363&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35065363,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007126.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Pro",
"transcript": "NM_007126.5",
"protein_id": "NP_009057.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 806,
"cds_start": 464,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": "ENST00000358901.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Pro",
"transcript": "ENST00000358901.11",
"protein_id": "ENSP00000351777.6",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 806,
"cds_start": 464,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": "NM_007126.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288699",
"gene_hgnc_id": null,
"hgvs_c": "n.*562G>C",
"hgvs_p": null,
"transcript": "ENST00000681845.1",
"protein_id": "ENSP00000505452.1",
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288699",
"gene_hgnc_id": null,
"hgvs_c": "n.*562G>C",
"hgvs_p": null,
"transcript": "ENST00000681845.1",
"protein_id": "ENSP00000505452.1",
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.458G>C",
"hgvs_p": "p.Arg153Pro",
"transcript": "ENST00000677257.1",
"protein_id": "ENSP00000504354.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 804,
"cds_start": 458,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Pro",
"transcript": "ENST00000679902.1",
"protein_id": "ENSP00000506338.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 772,
"cds_start": 464,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.329G>C",
"hgvs_p": "p.Arg110Pro",
"transcript": "NM_001354927.2",
"protein_id": "NP_001341856.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 761,
"cds_start": 329,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 3806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.329G>C",
"hgvs_p": "p.Arg110Pro",
"transcript": "NM_001354928.2",
"protein_id": "NP_001341857.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 761,
"cds_start": 329,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.329G>C",
"hgvs_p": "p.Arg110Pro",
"transcript": "ENST00000417448.2",
"protein_id": "ENSP00000399456.2",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 761,
"cds_start": 329,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.329G>C",
"hgvs_p": "p.Arg110Pro",
"transcript": "ENST00000448530.6",
"protein_id": "ENSP00000392088.2",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 761,
"cds_start": 329,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.329G>C",
"hgvs_p": "p.Arg110Pro",
"transcript": "ENST00000678650.1",
"protein_id": "ENSP00000503426.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 761,
"cds_start": 329,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.329G>C",
"hgvs_p": "p.Arg110Pro",
"transcript": "ENST00000679862.1",
"protein_id": "ENSP00000504990.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 760,
"cds_start": 329,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Pro",
"transcript": "ENST00000681335.1",
"protein_id": "ENSP00000505230.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 754,
"cds_start": 464,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Pro",
"transcript": "ENST00000679647.1",
"protein_id": "ENSP00000506216.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 733,
"cds_start": 464,
"cds_end": null,
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"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "c.215G>C",
"hgvs_p": "p.Arg72Pro",
"transcript": "ENST00000681562.1",
"protein_id": "ENSP00000505893.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 108,
"cds_start": 215,
"cds_end": null,
"cds_length": 327,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 328,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.736G>C",
"hgvs_p": null,
"transcript": "ENST00000480327.2",
"protein_id": null,
"transcript_support_level": 5,
"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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"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.660G>C",
"hgvs_p": null,
"transcript": "ENST00000493886.5",
"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": 2942,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.810G>C",
"hgvs_p": null,
"transcript": "ENST00000676836.2",
"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,
"cdna_end": null,
"cdna_length": 3597,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.*435G>C",
"hgvs_p": null,
"transcript": "ENST00000678018.1",
"protein_id": "ENSP00000503811.1",
"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": 4480,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.464G>C",
"hgvs_p": null,
"transcript": "ENST00000678465.1",
"protein_id": "ENSP00000504259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 4451,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.464G>C",
"hgvs_p": null,
"transcript": "ENST00000679204.2",
"protein_id": "ENSP00000503131.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2987,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.734G>C",
"hgvs_p": null,
"transcript": "ENST00000679599.1",
"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": 5506,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCP",
"gene_hgnc_id": 12666,
"hgvs_c": "n.785G>C",
"hgvs_p": null,
"transcript": "ENST00000679800.1",
"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,
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],
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"dbsnp": "rs121909329",
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"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9132740497589111,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.825,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9834,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.768,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 9,
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"pathogenic_score": 9,
"criteria": [
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"PM2",
"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_007126.5",
"gene_symbol": "VCP",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Arg155Pro"
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{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000681845.1",
"gene_symbol": "ENSG00000288699",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.*562G>C",
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}
],
"clinvar_disease": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}