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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: 8-144083951-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144083951&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144083951,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000355091.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "NM_003801.4",
"protein_id": "NP_003792.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 621,
"cds_start": 527,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "ENST00000355091.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "ENST00000355091.9",
"protein_id": "ENSP00000347206.4",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 621,
"cds_start": 527,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": "NM_003801.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.347G>C",
"hgvs_p": "p.Trp116Ser",
"transcript": "ENST00000361036.11",
"protein_id": "ENSP00000354316.6",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 561,
"cds_start": 347,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290230",
"gene_hgnc_id": null,
"hgvs_c": "n.*249G>C",
"hgvs_p": null,
"transcript": "ENST00000703646.1",
"protein_id": "ENSP00000515414.1",
"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": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290230",
"gene_hgnc_id": null,
"hgvs_c": "n.*249G>C",
"hgvs_p": null,
"transcript": "ENST00000703646.1",
"protein_id": "ENSP00000515414.1",
"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": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "ENST00000703648.1",
"protein_id": "ENSP00000515415.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 626,
"cds_start": 527,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "ENST00000703649.1",
"protein_id": "ENSP00000515416.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 624,
"cds_start": 527,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "ENST00000703620.1",
"protein_id": "ENSP00000515404.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 619,
"cds_start": 527,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "ENST00000703633.1",
"protein_id": "ENSP00000515410.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 607,
"cds_start": 527,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "ENST00000703621.1",
"protein_id": "ENSP00000515405.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 606,
"cds_start": 527,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "ENST00000704807.1",
"protein_id": "ENSP00000516044.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 604,
"cds_start": 527,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser",
"transcript": "ENST00000703622.1",
"protein_id": "ENSP00000515406.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 580,
"cds_start": 527,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.347G>C",
"hgvs_p": "p.Trp116Ser",
"transcript": "ENST00000704806.1",
"protein_id": "ENSP00000516043.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 546,
"cds_start": 347,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.161G>C",
"hgvs_p": "p.Trp54Ser",
"transcript": "ENST00000704794.1",
"protein_id": "ENSP00000516039.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 499,
"cds_start": 161,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.161G>C",
"hgvs_p": "p.Trp54Ser",
"transcript": "ENST00000703635.1",
"protein_id": "ENSP00000515412.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 431,
"cds_start": 161,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.311G>C",
"hgvs_p": "p.Trp104Ser",
"transcript": "ENST00000525087.6",
"protein_id": "ENSP00000434485.3",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 347,
"cds_start": 311,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.922G>C",
"hgvs_p": null,
"transcript": "ENST00000525308.2",
"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": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.*69G>C",
"hgvs_p": null,
"transcript": "ENST00000526341.6",
"protein_id": "ENSP00000515386.1",
"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": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.527G>C",
"hgvs_p": null,
"transcript": "ENST00000527144.6",
"protein_id": "ENSP00000515403.1",
"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": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.527G>C",
"hgvs_p": null,
"transcript": "ENST00000528073.6",
"protein_id": "ENSP00000435119.1",
"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": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.451G>C",
"hgvs_p": null,
"transcript": "ENST00000529503.6",
"protein_id": "ENSP00000435024.1",
"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": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.624G>C",
"hgvs_p": null,
"transcript": "ENST00000529638.2",
"protein_id": null,
"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": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.932G>C",
"hgvs_p": null,
"transcript": "ENST00000530258.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"transcript": "ENST00000703631.1",
"protein_id": "ENSP00000515409.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "GPAA1",
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"hgvs_c": "n.196-335G>C",
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"transcript": "ENST00000704793.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 1697,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "n.-177G>C",
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"transcript": "ENST00000527653.1",
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"transcript_support_level": 2,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 856,
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"feature": null
}
],
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"dbsnp": "rs782220208",
"frequency_reference_population": 0.0000075253706,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752537,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9767976999282837,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.751,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.07,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000355091.9",
"gene_symbol": "GPAA1",
"hgnc_id": 4446,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.527G>C",
"hgvs_p": "p.Trp176Ser"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000703646.1",
"gene_symbol": "ENSG00000290230",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*249G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Glycosylphosphatidylinositol biosynthesis defect 15",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Glycosylphosphatidylinositol biosynthesis defect 15",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}