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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: 4-113513909-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113513909&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113513909,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321571.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321571.2",
"protein_id": "NP_001308500.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 533,
"cds_start": 824,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": "ENST00000511664.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000511664.6",
"protein_id": "ENSP00000425824.1",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 533,
"cds_start": 824,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": "NM_001321571.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000394522.7",
"protein_id": "ENSP00000378030.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 492,
"cds_start": 824,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000508738.5",
"protein_id": "ENSP00000422566.1",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 489,
"cds_start": 824,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000379773.6",
"protein_id": "ENSP00000369098.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 478,
"cds_start": 824,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321569.2",
"protein_id": "NP_001308498.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 533,
"cds_start": 824,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321573.2",
"protein_id": "NP_001308502.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 524,
"cds_start": 824,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000699048.1",
"protein_id": "ENSP00000514100.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 524,
"cds_start": 824,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 5255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000699418.1",
"protein_id": "ENSP00000514376.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 523,
"cds_start": 824,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000706056.1",
"protein_id": "ENSP00000516208.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 523,
"cds_start": 824,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321580.2",
"protein_id": "NP_001308509.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 519,
"cds_start": 824,
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"cdna_start": 1494,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321566.2",
"protein_id": "NP_001308495.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 513,
"cds_start": 824,
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"cdna_start": 1494,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001396964.1",
"protein_id": "NP_001383893.1",
"transcript_support_level": null,
"aa_start": 275,
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"aa_length": 513,
"cds_start": 824,
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"cdna_start": 1494,
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"mane_select": 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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"exon_rank_end": null,
"exon_count": 20,
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"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000699047.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000699381.1",
"protein_id": "ENSP00000514346.1",
"transcript_support_level": null,
"aa_start": 275,
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"cds_start": 824,
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"mane_select": 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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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321567.2",
"protein_id": "NP_001308496.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321570.2",
"protein_id": "NP_001308499.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
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"cds_start": 824,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321572.2",
"protein_id": "NP_001308501.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
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"cds_start": 824,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CAMK2D",
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"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321579.2",
"protein_id": "NP_001308508.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CAMK2D",
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"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "NM_001321588.2",
"protein_id": "NP_001308517.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CAMK2D",
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"hgvs_c": "c.824G>A",
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"transcript": "ENST00000505990.5",
"protein_id": "ENSP00000424245.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000699376.1",
"protein_id": "ENSP00000514341.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 512,
"cds_start": 824,
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"cdna_start": 1352,
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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": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2D",
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"gene_hgnc_id": 1462,
"hgvs_c": "c.-68G>A",
"hgvs_p": null,
"transcript": "ENST00000513132.5",
"protein_id": "ENSP00000424247.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": -4,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAMK2D",
"gene_hgnc_id": 1462,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.626073956489563,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.304,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8959,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.833,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321571.2",
"gene_symbol": "CAMK2D",
"hgnc_id": 1462,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000835919.1",
"gene_symbol": "ENSG00000308709",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.203+10892C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Neurodevelopmental disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Neurodevelopmental disorder|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}