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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: 7-48403729-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=48403729&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 48403729,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000435803.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "NM_152701.5",
"protein_id": "NP_689914.3",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 5058,
"cds_start": 11920,
"cds_end": null,
"cds_length": 15177,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 17188,
"mane_select": "ENST00000435803.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "ENST00000435803.6",
"protein_id": "ENSP00000411096.1",
"transcript_support_level": 1,
"aa_start": 3974,
"aa_end": null,
"aa_length": 5058,
"cds_start": 11920,
"cds_end": null,
"cds_length": 15177,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 17188,
"mane_select": "NM_152701.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.3838C>T",
"hgvs_p": "p.Arg1280*",
"transcript": "ENST00000544596.5",
"protein_id": "ENSP00000442634.2",
"transcript_support_level": 1,
"aa_start": 1280,
"aa_end": null,
"aa_length": 2365,
"cds_start": 3838,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 7870,
"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": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "n.3839C>T",
"hgvs_p": null,
"transcript": "ENST00000611776.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 7250,
"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": 39,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515130.3",
"protein_id": "XP_011513432.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 5059,
"cds_start": 11920,
"cds_end": null,
"cds_length": 15180,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 17191,
"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": 39,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515131.3",
"protein_id": "XP_011513433.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 5028,
"cds_start": 11920,
"cds_end": null,
"cds_length": 15087,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 17098,
"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": 39,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515132.3",
"protein_id": "XP_011513434.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 5028,
"cds_start": 11920,
"cds_end": null,
"cds_length": 15087,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 17098,
"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": 38,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11782C>T",
"hgvs_p": "p.Arg3928*",
"transcript": "XM_011515133.3",
"protein_id": "XP_011513435.1",
"transcript_support_level": null,
"aa_start": 3928,
"aa_end": null,
"aa_length": 5013,
"cds_start": 11782,
"cds_end": null,
"cds_length": 15042,
"cdna_start": 11808,
"cdna_end": null,
"cdna_length": 17053,
"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": 39,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_047419918.1",
"protein_id": "XP_047275874.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4997,
"cds_start": 11920,
"cds_end": null,
"cds_length": 14994,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 17005,
"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": 39,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515134.3",
"protein_id": "XP_011513436.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4950,
"cds_start": 11920,
"cds_end": null,
"cds_length": 14853,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 15906,
"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": 34,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11326C>T",
"hgvs_p": "p.Arg3776*",
"transcript": "XM_011515136.2",
"protein_id": "XP_011513438.2",
"transcript_support_level": null,
"aa_start": 3776,
"aa_end": null,
"aa_length": 4861,
"cds_start": 11326,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 11341,
"cdna_end": null,
"cdna_length": 16586,
"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": 39,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_047419919.1",
"protein_id": "XP_047275875.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4849,
"cds_start": 11920,
"cds_end": null,
"cds_length": 14550,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 14704,
"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": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_047419920.1",
"protein_id": "XP_047275876.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4829,
"cds_start": 11920,
"cds_end": null,
"cds_length": 14490,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 16390,
"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": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_047419921.1",
"protein_id": "XP_047275877.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
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"cds_start": 11920,
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"cdna_start": 11946,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515137.4",
"protein_id": "XP_011513439.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4602,
"cds_start": 11920,
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"cds_length": 13809,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 13911,
"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": 39,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_047419922.1",
"protein_id": "XP_047275878.1",
"transcript_support_level": null,
"aa_start": 3974,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515138.3",
"protein_id": "XP_011513440.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4468,
"cds_start": 11920,
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"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 13531,
"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": 39,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515139.3",
"protein_id": "XP_011513441.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4456,
"cds_start": 11920,
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"cdna_start": 11946,
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"cdna_length": 13498,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_017011767.2",
"protein_id": "XP_016867256.1",
"transcript_support_level": null,
"aa_start": 3974,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_017011768.2",
"protein_id": "XP_016867257.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
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"cds_start": 11920,
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"cdna_start": 11946,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515141.3",
"protein_id": "XP_011513443.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4329,
"cds_start": 11920,
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"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 13043,
"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": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
"transcript": "XM_011515142.3",
"protein_id": "XP_011513444.1",
"transcript_support_level": null,
"aa_start": 3974,
"aa_end": null,
"aa_length": 4298,
"cds_start": 11920,
"cds_end": null,
"cds_length": 12897,
"cdna_start": 11946,
"cdna_end": null,
"cdna_length": 12950,
"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": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*",
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},
{
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"protein_coding": true,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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},
{
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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},
{
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],
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},
{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ABCA13",
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"transcript": "XR_926919.3",
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}
],
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"dbsnp": "rs544438554",
"frequency_reference_population": 0.000086123146,
"hom_count_reference_population": 0,
"allele_count_reference_population": 139,
"gnomad_exomes_af": 0.0000889396,
"gnomad_genomes_af": 0.0000590931,
"gnomad_exomes_ac": 130,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2800000011920929,
"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": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.482,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000435803.6",
"gene_symbol": "ABCA13",
"hgnc_id": 14638,
"effects": [
"stop_gained"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.11920C>T",
"hgvs_p": "p.Arg3974*"
}
],
"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
}