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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: 10-49819425-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=49819425&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 49819425,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003631.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2846A>G",
"hgvs_p": "p.Asp949Gly",
"transcript": "NM_003631.5",
"protein_id": "NP_003622.2",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 976,
"cds_start": 2846,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616448.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003631.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2846A>G",
"hgvs_p": "p.Asp949Gly",
"transcript": "ENST00000616448.2",
"protein_id": "ENSP00000484285.1",
"transcript_support_level": 1,
"aa_start": 949,
"aa_end": null,
"aa_length": 976,
"cds_start": 2846,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003631.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616448.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2846A>G",
"hgvs_p": "p.Asp949Gly",
"transcript": "ENST00000402038.7",
"protein_id": "ENSP00000384408.3",
"transcript_support_level": 1,
"aa_start": 949,
"aa_end": null,
"aa_length": 976,
"cds_start": 2846,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402038.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2846A>G",
"hgvs_p": "p.Asp949Gly",
"transcript": "ENST00000941174.1",
"protein_id": "ENSP00000611233.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 976,
"cds_start": 2846,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941174.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2753A>G",
"hgvs_p": "p.Asp918Gly",
"transcript": "ENST00000934076.1",
"protein_id": "ENSP00000604135.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 945,
"cds_start": 2753,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934076.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2723A>G",
"hgvs_p": "p.Asp908Gly",
"transcript": "ENST00000941177.1",
"protein_id": "ENSP00000611236.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 935,
"cds_start": 2723,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941177.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2705A>G",
"hgvs_p": "p.Asp902Gly",
"transcript": "ENST00000941176.1",
"protein_id": "ENSP00000611235.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 929,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941176.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2600A>G",
"hgvs_p": "p.Asp867Gly",
"transcript": "NM_001303486.3",
"protein_id": "NP_001290415.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 894,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303486.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2600A>G",
"hgvs_p": "p.Asp867Gly",
"transcript": "NM_001324381.3",
"protein_id": "NP_001311310.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 894,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324381.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Asp851Gly",
"transcript": "ENST00000941178.1",
"protein_id": "ENSP00000611237.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 878,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941178.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2522A>G",
"hgvs_p": "p.Asp841Gly",
"transcript": "NM_001303487.3",
"protein_id": "NP_001290416.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 868,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303487.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.1604A>G",
"hgvs_p": "p.Asp535Gly",
"transcript": "NM_001303489.3",
"protein_id": "NP_001290418.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 562,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303489.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.995A>G",
"hgvs_p": "p.Asp332Gly",
"transcript": "ENST00000941175.1",
"protein_id": "ENSP00000611234.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 359,
"cds_start": 995,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941175.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Asp237Gly",
"transcript": "ENST00000865657.1",
"protein_id": "ENSP00000535716.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 264,
"cds_start": 710,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865657.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "c.2723A>G",
"hgvs_p": "p.Asp908Gly",
"transcript": "XM_011540305.2",
"protein_id": "XP_011538607.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 935,
"cds_start": 2723,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540305.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "n.*700A>G",
"hgvs_p": null,
"transcript": "ENST00000610922.1",
"protein_id": "ENSP00000481064.1",
"transcript_support_level": 2,
"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": "ENST00000610922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "n.*2527A>G",
"hgvs_p": null,
"transcript": "ENST00000614063.4",
"protein_id": "ENSP00000480645.1",
"transcript_support_level": 2,
"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": "ENST00000614063.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "n.3148A>G",
"hgvs_p": null,
"transcript": "NR_130168.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_130168.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "n.2094A>G",
"hgvs_p": null,
"transcript": "NR_130169.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_130169.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "n.3081A>G",
"hgvs_p": null,
"transcript": "NR_136752.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_136752.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "n.2161A>G",
"hgvs_p": null,
"transcript": "NR_136753.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_136753.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"hgvs_c": "n.3168A>G",
"hgvs_p": null,
"transcript": "NR_136754.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_136754.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "PARG",
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"biotype": "pseudogene",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 8,
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"gene_symbol": "PARG",
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"hgvs_c": "n.*700A>G",
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"transcript": "ENST00000610922.1",
"protein_id": "ENSP00000481064.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000610922.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARG",
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"hgvs_c": "n.*2527A>G",
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"transcript": "ENST00000614063.4",
"protein_id": "ENSP00000480645.1",
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"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": "ENST00000614063.4"
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],
"gene_symbol": "PARG",
"gene_hgnc_id": 8605,
"dbsnp": "rs1202027683",
"frequency_reference_population": 0.0000012895189,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.14912e-7,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1936398446559906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.118,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.912,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_003631.5",
"gene_symbol": "PARG",
"hgnc_id": 8605,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2846A>G",
"hgvs_p": "p.Asp949Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}