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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: 8-86474342-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=86474342&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 86474342,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016033.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.911C>T",
"hgvs_p": "p.Ala304Val",
"transcript": "NM_016033.3",
"protein_id": "NP_057117.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 314,
"cds_start": 911,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000406452.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016033.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.911C>T",
"hgvs_p": "p.Ala304Val",
"transcript": "ENST00000406452.8",
"protein_id": "ENSP00000385927.3",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 314,
"cds_start": 911,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016033.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406452.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Ala350Val",
"transcript": "ENST00000902721.1",
"protein_id": "ENSP00000572780.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 360,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902721.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"transcript": "ENST00000902719.1",
"protein_id": "ENSP00000572778.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 328,
"cds_start": 953,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902719.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "ENST00000949087.1",
"protein_id": "ENSP00000619146.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 312,
"cds_start": 905,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949087.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Ala302Val",
"transcript": "ENST00000949088.1",
"protein_id": "ENSP00000619147.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 312,
"cds_start": 905,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949088.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ala288Val",
"transcript": "ENST00000902723.1",
"protein_id": "ENSP00000572782.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 298,
"cds_start": 863,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902723.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"transcript": "NM_001286719.2",
"protein_id": "NP_001273648.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 284,
"cds_start": 821,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286719.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"transcript": "ENST00000430676.6",
"protein_id": "ENSP00000409661.2",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 284,
"cds_start": 821,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430676.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"transcript": "NM_001286707.2",
"protein_id": "NP_001273636.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 271,
"cds_start": 782,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286707.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"transcript": "ENST00000519966.5",
"protein_id": "ENSP00000428661.1",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 271,
"cds_start": 782,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519966.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ala256Val",
"transcript": "ENST00000902720.1",
"protein_id": "ENSP00000572779.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 266,
"cds_start": 767,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902720.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Ala249Val",
"transcript": "ENST00000949089.1",
"protein_id": "ENSP00000619148.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 259,
"cds_start": 746,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949089.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ala155Val",
"transcript": "ENST00000520719.5",
"protein_id": "ENSP00000428360.1",
"transcript_support_level": 3,
"aa_start": 155,
"aa_end": null,
"aa_length": 165,
"cds_start": 464,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520719.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Ala133Val",
"transcript": "ENST00000902722.1",
"protein_id": "ENSP00000572781.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 143,
"cds_start": 398,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902722.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Ala318Val",
"transcript": "XM_011517093.3",
"protein_id": "XP_011515395.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 328,
"cds_start": 953,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517093.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Ala305Val",
"transcript": "XM_011517096.3",
"protein_id": "XP_011515398.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 315,
"cds_start": 914,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517096.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"transcript": "XM_017013521.1",
"protein_id": "XP_016869010.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 301,
"cds_start": 872,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013521.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.863C>T",
"hgvs_p": "p.Ala288Val",
"transcript": "XM_011517097.3",
"protein_id": "XP_011515399.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 298,
"cds_start": 863,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517097.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "XM_011517098.3",
"protein_id": "XP_011515400.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 285,
"cds_start": 824,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517098.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.723+478C>T",
"hgvs_p": null,
"transcript": "NM_001317807.2",
"protein_id": "NP_001304736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317807.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.723+478C>T",
"hgvs_p": null,
"transcript": "ENST00000523911.5",
"protein_id": "ENSP00000429899.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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{
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{
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],
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{
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],
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{
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],
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"biotype": "pseudogene",
"feature": "XR_007060734.1"
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{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"transcript": "ENST00000522942.1",
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"biotype": "protein_coding",
"feature": "ENST00000522942.1"
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],
"gene_symbol": "RMDN1",
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"dbsnp": "rs143734293",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 6.84566e-7,
"gnomad_genomes_af": 0.0000459939,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11172223091125488,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0937,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.887,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016033.3",
"gene_symbol": "RMDN1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.911C>T",
"hgvs_p": "p.Ala304Val"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000520798.5",
"gene_symbol": "WWP1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
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}
],
"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
}