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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: 2-11784824-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11784824&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 11784824,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001261428.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "NM_001349206.2",
"protein_id": "NP_001336135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": "ENST00000674199.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349206.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000674199.1",
"protein_id": "ENSP00000501331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": "NM_001349206.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674199.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1251-62T>C",
"hgvs_p": null,
"transcript": "ENST00000256720.6",
"protein_id": "ENSP00000256720.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256720.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.844-62T>C",
"hgvs_p": null,
"transcript": "ENST00000404113.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000404113.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000852442.1",
"protein_id": "ENSP00000522501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": null,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000961826.1",
"protein_id": "ENSP00000631885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 986,
"cds_start": null,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961826.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1506-62T>C",
"hgvs_p": null,
"transcript": "NM_001261428.3",
"protein_id": "NP_001248357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": null,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261428.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1506-62T>C",
"hgvs_p": null,
"transcript": "ENST00000449576.6",
"protein_id": "ENSP00000397908.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": null,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449576.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1449-62T>C",
"hgvs_p": null,
"transcript": "NM_001349207.2",
"protein_id": "NP_001336136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": null,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349207.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1398-62T>C",
"hgvs_p": null,
"transcript": "NM_001349208.2",
"protein_id": "NP_001336137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": null,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349208.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1377-62T>C",
"hgvs_p": null,
"transcript": "ENST00000396097.5",
"protein_id": "ENSP00000379404.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": null,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396097.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "NM_001349204.2",
"protein_id": "NP_001336133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
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"cds_length": 2781,
"cdna_start": null,
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"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349204.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "NM_001349205.2",
"protein_id": "NP_001336134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
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"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349205.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000852429.1",
"protein_id": "ENSP00000522488.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852429.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000852439.1",
"protein_id": "ENSP00000522498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852439.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000852440.1",
"protein_id": "ENSP00000522499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852440.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000961824.1",
"protein_id": "ENSP00000631883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961824.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000961825.1",
"protein_id": "ENSP00000631884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961825.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000961827.1",
"protein_id": "ENSP00000631886.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000961827.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000961831.1",
"protein_id": "ENSP00000631890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000961831.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1359-62T>C",
"hgvs_p": null,
"transcript": "ENST00000961832.1",
"protein_id": "ENSP00000631891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": null,
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"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961832.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.1356-62T>C",
"hgvs_p": null,
"transcript": "NM_001349202.2",
"protein_id": "NP_001336131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": null,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349202.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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{
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{
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"protein_coding": false,
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],
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{
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{
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],
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"gene_symbol": "LPIN1",
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"biotype": "pseudogene",
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],
"gene_symbol": "LPIN1",
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"dbsnp": "rs3795974",
"frequency_reference_population": 0.6049459,
"hom_count_reference_population": 283488,
"allele_count_reference_population": 917715,
"gnomad_exomes_af": 0.601415,
"gnomad_genomes_af": 0.636615,
"gnomad_exomes_ac": 820840,
"gnomad_genomes_ac": 96875,
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"gnomad_genomes_homalt": 31762,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.12,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001261428.3",
"gene_symbol": "LPIN1",
"hgnc_id": 13345,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1506-62T>C",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}