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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: 9-35106890-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35106890&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35106890,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_025182.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "NM_025182.4",
"protein_id": "NP_079458.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": "ENST00000322813.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025182.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000322813.10",
"protein_id": "ENSP00000319897.5",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": "NM_025182.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322813.10"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000378557.1",
"protein_id": "ENSP00000367819.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378557.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000378561.5",
"protein_id": "ENSP00000367823.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 3952,
"cdna_end": null,
"cdna_length": 5771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378561.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000603301.5",
"protein_id": "ENSP00000474335.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000603301.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "NM_001317991.2",
"protein_id": "NP_001304920.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317991.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000488109.6",
"protein_id": "ENSP00000475120.1",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488109.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000605244.5",
"protein_id": "ENSP00000474833.1",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000605244.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000903792.1",
"protein_id": "ENSP00000573851.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903792.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000903793.1",
"protein_id": "ENSP00000573852.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903793.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000903794.1",
"protein_id": "ENSP00000573853.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903794.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000903795.1",
"protein_id": "ENSP00000573854.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903795.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000903796.1",
"protein_id": "ENSP00000573855.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903796.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000903799.1",
"protein_id": "ENSP00000573858.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903799.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000903800.1",
"protein_id": "ENSP00000573859.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903800.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000903802.1",
"protein_id": "ENSP00000573861.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903802.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000919194.1",
"protein_id": "ENSP00000589253.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919194.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000919197.1",
"protein_id": "ENSP00000589256.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 538,
"cds_start": 896,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919197.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000971395.1",
"protein_id": "ENSP00000641454.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 537,
"cds_start": 896,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971395.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000971396.1",
"protein_id": "ENSP00000641455.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 532,
"cds_start": 896,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971396.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATOSB",
"gene_hgnc_id": 25666,
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala",
"transcript": "ENST00000971397.1",
"protein_id": "ENSP00000641456.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 532,
"cds_start": 896,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971397.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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{
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},
{
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"splice_region_variant"
],
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},
{
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"splice_region_variant"
],
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},
{
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"splice_region_variant"
],
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{
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"5_prime_UTR_variant"
],
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"gene_symbol": "ATOSB",
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"hgvs_c": "c.-20A>C",
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"transcript": "ENST00000378566.5",
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"biotype": "protein_coding",
"feature": "ENST00000378566.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ATOSB",
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"hgvs_c": "n.748A>C",
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"transcript": "NR_134455.2",
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"aa_end": null,
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"cds_end": null,
"cds_length": null,
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"biotype": "pseudogene",
"feature": "NR_134455.2"
}
],
"gene_symbol": "ATOSB",
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"dbsnp": "rs1420191692",
"frequency_reference_population": 0.000015950429,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000148352,
"gnomad_genomes_af": 0.0000263498,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08024069666862488,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03799999877810478,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.11,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.466,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0025850855897148,
"dbscsnv_ada_prediction": "Benign",
"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_025182.4",
"gene_symbol": "ATOSB",
"hgnc_id": 25666,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.896A>C",
"hgvs_p": "p.Asp299Ala"
}
],
"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
}