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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: 5-180791863-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180791863&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180791863,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002406.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_002406.4",
"protein_id": "NP_002397.2",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 8445,
"mane_select": "ENST00000307826.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002406.4"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "ENST00000307826.5",
"protein_id": "ENSP00000311888.4",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 8445,
"mane_select": "NM_002406.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307826.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001114617.2",
"protein_id": "NP_001108089.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 8845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114617.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001114618.1",
"protein_id": "NP_001108090.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114618.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001114619.1",
"protein_id": "NP_001108091.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114619.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001114620.1",
"protein_id": "NP_001108092.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114620.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364377.2",
"protein_id": "NP_001351306.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 9405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364377.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364379.2",
"protein_id": "NP_001351308.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 8950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364379.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364380.2",
"protein_id": "NP_001351309.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 8939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364380.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364381.2",
"protein_id": "NP_001351310.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 8940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364381.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364382.2",
"protein_id": "NP_001351311.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 8521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364382.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364383.2",
"protein_id": "NP_001351312.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 8510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364383.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364384.2",
"protein_id": "NP_001351313.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 8772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364384.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364385.2",
"protein_id": "NP_001351314.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
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"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 8630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364385.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364386.2",
"protein_id": "NP_001351315.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
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"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364386.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364387.2",
"protein_id": "NP_001351316.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 9287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364387.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364388.2",
"protein_id": "NP_001351317.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 8847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364388.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364389.2",
"protein_id": "NP_001351318.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
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"cdna_start": 1683,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364389.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364390.2",
"protein_id": "NP_001351319.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
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"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 8876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364390.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364391.2",
"protein_id": "NP_001351320.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
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"cdna_start": 1379,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364391.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364392.2",
"protein_id": "NP_001351321.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 8449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364392.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "NM_001364393.2",
"protein_id": "NP_001351322.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 445,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1462,
"cdna_end": null,
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{
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},
{
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},
{
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],
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"exon_count": 3,
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"gene_symbol": "MGAT1",
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"transcript": "XM_047417228.1",
"protein_id": "XP_047273184.1",
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"biotype": "protein_coding",
"feature": "XM_047417228.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 3,
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"gene_symbol": "MGAT1",
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"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly",
"transcript": "XM_047417229.1",
"protein_id": "XP_047273185.1",
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"cdna_start": 1523,
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"biotype": "protein_coding",
"feature": "XM_047417229.1"
}
],
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"dbsnp": "rs1451860949",
"frequency_reference_population": 6.840572e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84057e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49655187129974365,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.612,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.707,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002406.4",
"gene_symbol": "MGAT1",
"hgnc_id": 7044,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Val370Gly"
}
],
"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
}