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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: 7-140335447-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140335447&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 140335447,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_207113.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "NM_207113.3",
"protein_id": "NP_996996.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 494,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326232.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207113.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000326232.14",
"protein_id": "ENSP00000321498.9",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 494,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207113.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326232.14"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Val468Met",
"transcript": "ENST00000447932.6",
"protein_id": "ENSP00000397481.2",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 478,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447932.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Arg383His",
"transcript": "ENST00000340308.7",
"protein_id": "ENSP00000343358.3",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 443,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340308.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000904342.1",
"protein_id": "ENSP00000574401.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 494,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904342.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000904343.1",
"protein_id": "ENSP00000574402.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 494,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904343.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000904344.1",
"protein_id": "ENSP00000574403.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 494,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904344.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000937917.1",
"protein_id": "ENSP00000607976.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 494,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937917.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000937918.1",
"protein_id": "ENSP00000607977.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 494,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937918.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met",
"transcript": "ENST00000952705.1",
"protein_id": "ENSP00000622764.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 494,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952705.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1298G>A",
"hgvs_p": "p.Arg433His",
"transcript": "NM_001363373.1",
"protein_id": "NP_001350302.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 493,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363373.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Val483Met",
"transcript": "ENST00000937913.1",
"protein_id": "ENSP00000607972.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 493,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937913.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Val468Met",
"transcript": "NM_001287498.2",
"protein_id": "NP_001274427.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 478,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287498.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Arg417His",
"transcript": "NM_001363374.1",
"protein_id": "NP_001350303.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 477,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363374.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Met",
"transcript": "ENST00000904341.1",
"protein_id": "ENSP00000574400.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 466,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904341.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Val453Met",
"transcript": "ENST00000937911.1",
"protein_id": "ENSP00000607970.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 463,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937911.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1148G>A",
"hgvs_p": "p.Arg383His",
"transcript": "NM_032295.4",
"protein_id": "NP_115671.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 443,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032295.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Val425Met",
"transcript": "ENST00000937914.1",
"protein_id": "ENSP00000607973.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 435,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937914.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Val403Met",
"transcript": "NM_001363375.1",
"protein_id": "NP_001350304.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 413,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363375.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Val396Met",
"transcript": "NM_001363376.1",
"protein_id": "NP_001350305.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 406,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363376.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Val375Met",
"transcript": "ENST00000952704.1",
"protein_id": "ENSP00000622763.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 385,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952704.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "SLC37A3",
"gene_hgnc_id": 20651,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295His",
"transcript": "NM_001363377.1",
"protein_id": "NP_001350306.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 355,
"cds_start": 884,
"cds_end": null,
"cds_length": 1068,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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"downstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "SLC37A3",
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"transcript": "ENST00000485734.1",
"protein_id": "ENSP00000419285.1",
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"aa_length": 191,
"cds_start": null,
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"cds_length": 576,
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"biotype": "protein_coding",
"feature": "ENST00000485734.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "SLC37A3",
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"hgvs_c": "n.*25G>A",
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"transcript": "ENST00000485139.1",
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485139.1"
}
],
"gene_symbol": "SLC37A3",
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"dbsnp": "rs781138164",
"frequency_reference_population": 0.00002106557,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000218898,
"gnomad_genomes_af": 0.000013146,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07397091388702393,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.265,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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_207113.3",
"gene_symbol": "SLC37A3",
"hgnc_id": 20651,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Val484Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}