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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: 18-31087672-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31087672&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31087672,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000280904.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "NM_024422.6",
"protein_id": "NP_077740.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 901,
"cds_start": 772,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 12331,
"mane_select": "ENST00000280904.11",
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "ENST00000280904.11",
"protein_id": "ENSP00000280904.6",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 901,
"cds_start": 772,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 12331,
"mane_select": "NM_024422.6",
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "ENST00000251081.8",
"protein_id": "ENSP00000251081.6",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 847,
"cds_start": 772,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 12377,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "ENST00000713707.1",
"protein_id": "ENSP00000519010.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 908,
"cds_start": 772,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 5218,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "ENST00000713705.1",
"protein_id": "ENSP00000519008.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 900,
"cds_start": 772,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 5134,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Val255Met",
"transcript": "ENST00000713702.1",
"protein_id": "ENSP00000519005.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 898,
"cds_start": 763,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 5188,
"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": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "ENST00000713682.1",
"protein_id": "ENSP00000518985.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 856,
"cds_start": 772,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1233,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "ENST00000713704.1",
"protein_id": "ENSP00000519007.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 853,
"cds_start": 772,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4895,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "NM_004949.5",
"protein_id": "NP_004940.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 847,
"cds_start": 772,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 12377,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Val255Met",
"transcript": "ENST00000713706.1",
"protein_id": "ENSP00000519009.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 844,
"cds_start": 763,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 5230,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "ENST00000713722.1",
"protein_id": "ENSP00000519025.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 839,
"cds_start": 772,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1201,
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"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Val255Met",
"transcript": "ENST00000713703.1",
"protein_id": "ENSP00000519006.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 836,
"cds_start": 763,
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"cds_length": 2511,
"cdna_start": 1216,
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"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"transcript": "ENST00000713720.1",
"protein_id": "ENSP00000519023.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 772,
"cds_start": 772,
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"cds_length": 2319,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Met",
"transcript": "NM_001406506.1",
"protein_id": "NP_001393435.1",
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Met",
"transcript": "ENST00000648081.1",
"protein_id": "ENSP00000497441.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 758,
"cds_start": 343,
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"cdna_start": 827,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Met",
"transcript": "ENST00000682357.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Met",
"transcript": "ENST00000713681.1",
"protein_id": "ENSP00000518984.1",
"transcript_support_level": null,
"aa_start": 115,
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"cdna_start": 837,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Met",
"transcript": "ENST00000713683.1",
"protein_id": "ENSP00000518986.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
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"cds_start": 343,
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"cdna_start": 729,
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},
{
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"strand": false,
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],
"exon_rank": 6,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "DSC2",
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"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Met",
"transcript": "ENST00000713685.1",
"protein_id": "ENSP00000518988.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Met",
"transcript": "ENST00000713721.1",
"protein_id": "ENSP00000519024.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "DSC2",
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"hgvs_p": "p.Val115Met",
"transcript": "ENST00000850650.1",
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"cdna_start": 1013,
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"cdna_length": 4068,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Val71Met",
"transcript": "ENST00000713684.1",
"protein_id": "ENSP00000518987.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 714,
"cds_start": 211,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 4607,
"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": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Val115Met",
"transcript": "NM_001406507.1",
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},
{
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{
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{
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},
{
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}
],
"gene_symbol": "DSC2",
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"dbsnp": "rs1060502992",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.258490651845932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.1561,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.71,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000280904.11",
"gene_symbol": "DSC2",
"hgnc_id": 3036,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met"
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 11,Cardiovascular phenotype,Familial isolated arrhythmogenic right ventricular dysplasia",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "Arrhythmogenic right ventricular dysplasia 11|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}