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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: 15-55355361-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=55355361&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 55355361,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_004855.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532*",
"transcript": "NM_004855.5",
"protein_id": "NP_004846.4",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 554,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": "ENST00000164305.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532*",
"transcript": "ENST00000164305.10",
"protein_id": "ENSP00000164305.5",
"transcript_support_level": 1,
"aa_start": 532,
"aa_end": null,
"aa_length": 554,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": "NM_004855.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCPG1",
"gene_hgnc_id": 24227,
"hgvs_c": "c.*859G>A",
"hgvs_p": null,
"transcript": "NM_001204450.2",
"protein_id": "NP_001191379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": "ENST00000442196.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCPG1",
"gene_hgnc_id": 24227,
"hgvs_c": "c.*859G>A",
"hgvs_p": null,
"transcript": "ENST00000442196.8",
"protein_id": "ENSP00000403400.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": "NM_001204450.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCPG1",
"gene_hgnc_id": 24227,
"hgvs_c": "c.*4138G>A",
"hgvs_p": null,
"transcript": "ENST00000310958.10",
"protein_id": "ENSP00000311656.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1597C>T",
"hgvs_p": "p.Arg533*",
"transcript": "ENST00000539642.5",
"protein_id": "ENSP00000438963.2",
"transcript_support_level": 5,
"aa_start": 533,
"aa_end": null,
"aa_length": 555,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1549C>T",
"hgvs_p": "p.Arg517*",
"transcript": "XM_011522235.4",
"protein_id": "XP_011520537.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 539,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1489C>T",
"hgvs_p": "p.Arg497*",
"transcript": "XM_011522236.4",
"protein_id": "XP_011520538.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 519,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "XM_011522237.3",
"protein_id": "XP_011520539.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 421,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "XM_017022730.1",
"protein_id": "XP_016878219.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 421,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "XM_017022731.2",
"protein_id": "XP_016878220.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 421,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399*",
"transcript": "XM_047433363.1",
"protein_id": "XP_047289319.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 421,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371*",
"transcript": "XM_005254795.6",
"protein_id": "XP_005254852.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 393,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Arg371*",
"transcript": "XM_047433364.1",
"protein_id": "XP_047289320.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 393,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1530,
"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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.470C>T",
"hgvs_p": null,
"transcript": "ENST00000562751.1",
"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": 753,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.1651C>T",
"hgvs_p": null,
"transcript": "ENST00000563742.1",
"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": 1937,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF4-CCPG1",
"gene_hgnc_id": 43019,
"hgvs_c": "n.4476G>A",
"hgvs_p": null,
"transcript": "ENST00000565113.5",
"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": 4589,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.*830C>T",
"hgvs_p": null,
"transcript": "ENST00000565367.5",
"protein_id": "ENSP00000455943.1",
"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": 1812,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.*231C>T",
"hgvs_p": null,
"transcript": "ENST00000565502.5",
"protein_id": "ENSP00000455040.1",
"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": 781,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF4-CCPG1",
"gene_hgnc_id": 43019,
"hgvs_c": "n.4700G>A",
"hgvs_p": null,
"transcript": "NR_037923.1",
"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": 4838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCPG1",
"gene_hgnc_id": 24227,
"hgvs_c": "c.*4138G>A",
"hgvs_p": null,
"transcript": "NM_004748.6",
"protein_id": "NP_004739.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCPG1",
"gene_hgnc_id": 24227,
"hgvs_c": "c.*4138G>A",
"hgvs_p": null,
"transcript": "NM_020739.5",
"protein_id": "NP_065790.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCPG1",
"gene_hgnc_id": 24227,
"hgvs_c": "c.*859G>A",
"hgvs_p": null,
"transcript": "NM_001204451.2",
"protein_id": "NP_001191380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.*830C>T",
"hgvs_p": null,
"transcript": "ENST00000565367.5",
"protein_id": "ENSP00000455943.1",
"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": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.*231C>T",
"hgvs_p": null,
"transcript": "ENST00000565502.5",
"protein_id": "ENSP00000455040.1",
"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": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCPG1",
"gene_hgnc_id": 24227,
"hgvs_c": "c.241+951G>A",
"hgvs_p": null,
"transcript": "ENST00000564663.1",
"protein_id": "ENSP00000457967.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"dbsnp": "rs367927367",
"frequency_reference_population": 0.000014287542,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.000014406,
"gnomad_genomes_af": 0.0000131524,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.854,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004855.5",
"gene_symbol": "PIGB",
"hgnc_id": 8959,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532*"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001204450.2",
"gene_symbol": "CCPG1",
"hgnc_id": 24227,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*859G>A",
"hgvs_p": null
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000565113.5",
"gene_symbol": "DNAAF4-CCPG1",
"hgnc_id": 43019,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4476G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 80,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 80|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}