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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: 15-64204517-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=64204517&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 64204517,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001329605.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "NM_022048.5",
"protein_id": "NP_071331.2",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303052.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022048.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000303052.13",
"protein_id": "ENSP00000305777.7",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022048.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303052.13"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000607537.6",
"protein_id": "ENSP00000475724.1",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 475,
"cds_start": 923,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607537.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000561349.6",
"protein_id": "ENSP00000476088.2",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 438,
"cds_start": 923,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561349.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "n.923G>A",
"hgvs_p": null,
"transcript": "ENST00000606225.1",
"protein_id": "ENSP00000475325.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000606225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259316",
"gene_hgnc_id": null,
"hgvs_c": "n.1538G>A",
"hgvs_p": null,
"transcript": "ENST00000634251.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000634251.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "NM_001329605.2",
"protein_id": "NP_001316534.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 475,
"cds_start": 923,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329605.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000634654.1",
"protein_id": "ENSP00000489233.1",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 459,
"cds_start": 923,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634654.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000634811.1",
"protein_id": "ENSP00000489116.1",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 459,
"cds_start": 923,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634811.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000887582.1",
"protein_id": "ENSP00000557641.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 459,
"cds_start": 923,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887582.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "NM_001329607.2",
"protein_id": "NP_001316536.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 438,
"cds_start": 923,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329607.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000635142.1",
"protein_id": "ENSP00000489165.1",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 430,
"cds_start": 923,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635142.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316Gln",
"transcript": "ENST00000919647.1",
"protein_id": "ENSP00000589706.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 430,
"cds_start": 947,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919647.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "NM_001329606.2",
"protein_id": "NP_001316535.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329606.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000606793.3",
"protein_id": "ENSP00000475686.2",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606793.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000887581.1",
"protein_id": "ENSP00000557640.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887581.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000887583.1",
"protein_id": "ENSP00000557642.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887583.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000919646.1",
"protein_id": "ENSP00000589705.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919646.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000919648.1",
"protein_id": "ENSP00000589707.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919648.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000947286.1",
"protein_id": "ENSP00000617345.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947286.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000947287.1",
"protein_id": "ENSP00000617346.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 422,
"cds_start": 812,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947287.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK1G1",
"gene_hgnc_id": 2454,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln",
"transcript": "ENST00000947288.1",
"protein_id": "ENSP00000617347.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 422,
"cds_start": 923,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 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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},
{
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],
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"transcript": "ENST00000635414.1",
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"biotype": "protein_coding",
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],
"gene_symbol": "CSNK1G1",
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"dbsnp": "rs774073934",
"frequency_reference_population": 0.000013682736,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000136827,
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"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8140039443969727,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.462,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001329605.2",
"gene_symbol": "CSNK1G1",
"hgnc_id": 2454,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Arg308Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000634251.1",
"gene_symbol": "ENSG00000259316",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1538G>A",
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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
}