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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: 6-166929652-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166929652&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 166929652,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003730.6",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"transcript": "NM_003730.6",
"protein_id": "NP_003721.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 256,
"cds_start": 707,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000508775.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003730.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"transcript": "ENST00000508775.6",
"protein_id": "ENSP00000426455.2",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 256,
"cds_start": 707,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003730.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508775.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249141",
"gene_hgnc_id": null,
"hgvs_c": "c.432+4439G>A",
"hgvs_p": null,
"transcript": "ENST00000507747.1",
"protein_id": "ENSP00000426906.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507747.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282Gln",
"transcript": "ENST00000870284.1",
"protein_id": "ENSP00000540343.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 302,
"cds_start": 845,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870284.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"transcript": "ENST00000870283.1",
"protein_id": "ENSP00000540342.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 293,
"cds_start": 818,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870283.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "ENST00000870285.1",
"protein_id": "ENSP00000540344.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 273,
"cds_start": 758,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870285.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"transcript": "ENST00000476238.6",
"protein_id": "ENSP00000422846.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 256,
"cds_start": 707,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476238.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"transcript": "ENST00000870280.1",
"protein_id": "ENSP00000540339.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 256,
"cds_start": 707,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870280.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"transcript": "ENST00000870281.1",
"protein_id": "ENSP00000540340.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 256,
"cds_start": 707,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870281.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln",
"transcript": "ENST00000478180.6",
"protein_id": "ENSP00000426059.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 252,
"cds_start": 707,
"cds_end": null,
"cds_length": 761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478180.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211Gln",
"transcript": "ENST00000870282.1",
"protein_id": "ENSP00000540341.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 231,
"cds_start": 632,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870282.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000366855.10",
"protein_id": "ENSP00000424947.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 218,
"cds_start": 593,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366855.10"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000620173.5",
"protein_id": "ENSP00000482755.2",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 218,
"cds_start": 593,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620173.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000870279.1",
"protein_id": "ENSP00000540338.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 218,
"cds_start": 593,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870279.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"transcript": "ENST00000951735.1",
"protein_id": "ENSP00000621794.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 179,
"cds_start": 476,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951735.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"transcript": "ENST00000683770.1",
"protein_id": "ENSP00000507710.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 174,
"cds_start": 461,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683770.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "ENST00000684236.1",
"protein_id": "ENSP00000508128.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 164,
"cds_start": 431,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684236.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.419G>A",
"hgvs_p": "p.Arg140Gln",
"transcript": "ENST00000951734.1",
"protein_id": "ENSP00000621793.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 160,
"cds_start": 419,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951734.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000926043.1",
"protein_id": "ENSP00000596102.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 141,
"cds_start": 362,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "n.*495G>A",
"hgvs_p": null,
"transcript": "ENST00000028008.9",
"protein_id": "ENSP00000028008.5",
"transcript_support_level": 5,
"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": "ENST00000028008.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "n.*1061G>A",
"hgvs_p": null,
"transcript": "ENST00000421787.5",
"protein_id": "ENSP00000390833.1",
"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": "ENST00000421787.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"hgvs_c": "n.505G>A",
"hgvs_p": null,
"transcript": "ENST00000467705.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000467705.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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{
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"exon_rank": 6,
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"feature": "ENST00000682498.1"
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{
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{
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{
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"exon_rank": 9,
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"transcript": "ENST00000028008.9",
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{
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"3_prime_UTR_variant"
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{
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"3_prime_UTR_variant"
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"gene_symbol": "RNASET2",
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{
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"3_prime_UTR_variant"
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"gene_symbol": "RNASET2",
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"feature": "ENST00000682774.1"
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],
"gene_symbol": "RNASET2",
"gene_hgnc_id": 21686,
"dbsnp": "rs146590748",
"frequency_reference_population": 0.00084630674,
"hom_count_reference_population": 4,
"allele_count_reference_population": 1366,
"gnomad_exomes_af": 0.000831134,
"gnomad_genomes_af": 0.000992024,
"gnomad_exomes_ac": 1215,
"gnomad_genomes_ac": 151,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003961056470870972,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0751,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.463,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003730.6",
"gene_symbol": "RNASET2",
"hgnc_id": 21686,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236Gln"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000507747.1",
"gene_symbol": "ENSG00000249141",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.432+4439G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Cystic leukoencephalopathy without megalencephaly,RNASET2-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Cystic leukoencephalopathy without megalencephaly|RNASET2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}