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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: 11-119101531-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119101531&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119101531,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354202.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "NM_001382.4",
"protein_id": "NP_001373.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 408,
"cds_start": 125,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": "ENST00000354202.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "ENST00000354202.9",
"protein_id": "ENSP00000346142.4",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 408,
"cds_start": 125,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": "NM_001382.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.-76G>A",
"hgvs_p": null,
"transcript": "XM_011542648.3",
"protein_id": "XP_011540950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.-57G>A",
"hgvs_p": null,
"transcript": "XM_017017295.2",
"protein_id": "XP_016872784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "ENST00000409993.6",
"protein_id": "ENSP00000386597.2",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 408,
"cds_start": 125,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "ENST00000682791.1",
"protein_id": "ENSP00000507312.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 379,
"cds_start": 125,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "ENST00000639704.1",
"protein_id": "ENSP00000491336.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 377,
"cds_start": 125,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "XM_005271422.4",
"protein_id": "XP_005271479.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 434,
"cds_start": 125,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "XM_047426508.1",
"protein_id": "XP_047282464.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 408,
"cds_start": 125,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "XM_047426509.1",
"protein_id": "XP_047282465.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 313,
"cds_start": 125,
"cds_end": null,
"cds_length": 942,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "XM_047426510.1",
"protein_id": "XP_047282466.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 250,
"cds_start": 125,
"cds_end": null,
"cds_length": 753,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr",
"transcript": "XM_017017294.3",
"protein_id": "XP_016872783.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 242,
"cds_start": 125,
"cds_end": null,
"cds_length": 729,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.125G>A",
"hgvs_p": null,
"transcript": "ENST00000392834.7",
"protein_id": "ENSP00000376579.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.125G>A",
"hgvs_p": null,
"transcript": "ENST00000414373.5",
"protein_id": "ENSP00000402019.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.301G>A",
"hgvs_p": null,
"transcript": "ENST00000445653.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.330G>A",
"hgvs_p": null,
"transcript": "ENST00000460183.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.323G>A",
"hgvs_p": null,
"transcript": "ENST00000472016.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.612G>A",
"hgvs_p": null,
"transcript": "ENST00000481084.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.337G>A",
"hgvs_p": null,
"transcript": "ENST00000530052.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.125G>A",
"hgvs_p": null,
"transcript": "ENST00000640102.1",
"protein_id": "ENSP00000492027.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.125G>A",
"hgvs_p": null,
"transcript": "ENST00000640747.1",
"protein_id": "ENSP00000492730.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.327G>A",
"hgvs_p": null,
"transcript": "ENST00000682191.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.327G>A",
"hgvs_p": null,
"transcript": "ENST00000682192.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.133-688G>A",
"hgvs_p": null,
"transcript": "ENST00000442480.1",
"protein_id": "ENSP00000406591.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.-103G>A",
"hgvs_p": null,
"transcript": "ENST00000682883.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"hgvs_c": "n.-5G>A",
"hgvs_p": null,
"transcript": "ENST00000683567.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPAGT1",
"gene_hgnc_id": 2995,
"dbsnp": "rs375679649",
"frequency_reference_population": 0.0005012112,
"hom_count_reference_population": 0,
"allele_count_reference_population": 809,
"gnomad_exomes_af": 0.000519204,
"gnomad_genomes_af": 0.000328433,
"gnomad_exomes_ac": 759,
"gnomad_genomes_ac": 50,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07133328914642334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.267,
"revel_prediction": "Benign",
"alphamissense_score": 0.1155,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.764,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354202.9",
"gene_symbol": "DPAGT1",
"hgnc_id": 2995,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Cys42Tyr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000686641.1",
"gene_symbol": "ENSG00000289124",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.39C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital myasthenic syndrome 13,DPAGT1-congenital disorder of glycosylation,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:8",
"phenotype_combined": "DPAGT1-congenital disorder of glycosylation|DPAGT1-congenital disorder of glycosylation;Congenital myasthenic syndrome 13|not provided|not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}