← Back to variant description
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: 2-11773719-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11773719&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 11773719,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001261428.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_001349206.2",
"protein_id": "NP_001336135.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": "ENST00000674199.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349206.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000674199.1",
"protein_id": "ENSP00000501331.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": "NM_001349206.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674199.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000256720.6",
"protein_id": "ENSP00000256720.2",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256720.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.714G>C",
"hgvs_p": "p.Ser238Ser",
"transcript": "ENST00000396098.5",
"protein_id": "ENSP00000379405.1",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 459,
"cds_start": 714,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396098.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852442.1",
"protein_id": "ENSP00000522501.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 991,
"cds_start": 696,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852442.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961826.1",
"protein_id": "ENSP00000631885.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 986,
"cds_start": 696,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 5671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961826.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.843G>C",
"hgvs_p": "p.Ser281Ser",
"transcript": "NM_001261428.3",
"protein_id": "NP_001248357.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 975,
"cds_start": 843,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261428.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.843G>C",
"hgvs_p": "p.Ser281Ser",
"transcript": "ENST00000449576.6",
"protein_id": "ENSP00000397908.2",
"transcript_support_level": 2,
"aa_start": 281,
"aa_end": null,
"aa_length": 975,
"cds_start": 843,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449576.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.786G>C",
"hgvs_p": "p.Ser262Ser",
"transcript": "NM_001349207.2",
"protein_id": "NP_001336136.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 956,
"cds_start": 786,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349207.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.843G>C",
"hgvs_p": "p.Ser281Ser",
"transcript": "NM_001349208.2",
"protein_id": "NP_001336137.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 939,
"cds_start": 843,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349208.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.714G>C",
"hgvs_p": "p.Ser238Ser",
"transcript": "ENST00000396097.5",
"protein_id": "ENSP00000379404.2",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 932,
"cds_start": 714,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396097.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_001349204.2",
"protein_id": "NP_001336133.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349204.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_001349205.2",
"protein_id": "NP_001336134.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349205.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852429.1",
"protein_id": "ENSP00000522488.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852429.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852439.1",
"protein_id": "ENSP00000522498.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 4588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852439.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852440.1",
"protein_id": "ENSP00000522499.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852440.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961824.1",
"protein_id": "ENSP00000631883.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961824.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961825.1",
"protein_id": "ENSP00000631884.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961825.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961827.1",
"protein_id": "ENSP00000631886.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961827.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961831.1",
"protein_id": "ENSP00000631890.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961831.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961832.1",
"protein_id": "ENSP00000631891.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 926,
"cds_start": 696,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961832.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_001349202.2",
"protein_id": "NP_001336131.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 925,
"cds_start": 696,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349202.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_001349203.2",
"protein_id": "NP_001336132.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 925,
"cds_start": 696,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349203.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852426.1",
"protein_id": "ENSP00000522485.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 925,
"cds_start": 696,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852426.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852428.1",
"protein_id": "ENSP00000522487.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 925,
"cds_start": 696,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852428.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852431.1",
"protein_id": "ENSP00000522490.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 925,
"cds_start": 696,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852431.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961829.1",
"protein_id": "ENSP00000631888.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 925,
"cds_start": 696,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961829.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_001349200.2",
"protein_id": "NP_001336129.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 916,
"cds_start": 696,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349200.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_001349201.2",
"protein_id": "NP_001336130.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 916,
"cds_start": 696,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349201.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.714G>C",
"hgvs_p": "p.Ser238Ser",
"transcript": "NM_001261427.3",
"protein_id": "NP_001248356.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 896,
"cds_start": 714,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 5605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261427.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.714G>C",
"hgvs_p": "p.Ser238Ser",
"transcript": "ENST00000425416.6",
"protein_id": "ENSP00000401522.2",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 896,
"cds_start": 714,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425416.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_001349199.2",
"protein_id": "NP_001336128.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349199.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "NM_145693.4",
"protein_id": "NP_663731.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145693.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852427.1",
"protein_id": "ENSP00000522486.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 5454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852427.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852430.1",
"protein_id": "ENSP00000522489.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852430.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852433.1",
"protein_id": "ENSP00000522492.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852433.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852436.1",
"protein_id": "ENSP00000522495.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852436.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852437.1",
"protein_id": "ENSP00000522496.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852437.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852438.1",
"protein_id": "ENSP00000522497.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852438.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852441.1",
"protein_id": "ENSP00000522500.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852441.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000914304.1",
"protein_id": "ENSP00000584363.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914304.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961822.1",
"protein_id": "ENSP00000631881.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 5525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961822.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961823.1",
"protein_id": "ENSP00000631882.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961823.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961830.1",
"protein_id": "ENSP00000631889.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 890,
"cds_start": 696,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 5854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961830.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000961828.1",
"protein_id": "ENSP00000631887.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 875,
"cds_start": 696,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 5276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961828.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852434.1",
"protein_id": "ENSP00000522493.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 853,
"cds_start": 696,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852434.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852432.1",
"protein_id": "ENSP00000522491.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 817,
"cds_start": 696,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852432.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.696G>C",
"hgvs_p": "p.Ser232Ser",
"transcript": "ENST00000852435.1",
"protein_id": "ENSP00000522494.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 749,
"cds_start": 696,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.714G>C",
"hgvs_p": null,
"transcript": "ENST00000396099.5",
"protein_id": "ENSP00000379406.2",
"transcript_support_level": 5,
"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": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000396099.5"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.745G>C",
"hgvs_p": null,
"transcript": "NR_146080.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5492,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146080.2"
}
],
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"dbsnp": "rs145180224",
"frequency_reference_population": 0.010644652,
"hom_count_reference_population": 120,
"allele_count_reference_population": 17179,
"gnomad_exomes_af": 0.0109238,
"gnomad_genomes_af": 0.00796197,
"gnomad_exomes_ac": 15968,
"gnomad_genomes_ac": 1211,
"gnomad_exomes_homalt": 112,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.391,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001261428.3",
"gene_symbol": "LPIN1",
"hgnc_id": 13345,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.843G>C",
"hgvs_p": "p.Ser281Ser"
}
],
"clinvar_disease": " acute recurrent, autosomal recessive,Myoglobinuria,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|not provided|Myoglobinuria, acute recurrent, autosomal recessive",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}