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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: 20-42084781-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=42084781&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 42084781,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_133170.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4037C>G",
"hgvs_p": "p.Thr1346Arg",
"transcript": "NM_007050.6",
"protein_id": "NP_008981.4",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4037,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373187.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007050.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4037C>G",
"hgvs_p": "p.Thr1346Arg",
"transcript": "ENST00000373187.6",
"protein_id": "ENSP00000362283.1",
"transcript_support_level": 1,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1441,
"cds_start": 4037,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007050.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373187.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4103C>G",
"hgvs_p": "p.Thr1368Arg",
"transcript": "ENST00000373193.7",
"protein_id": "ENSP00000362289.4",
"transcript_support_level": 1,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373193.7"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4094C>G",
"hgvs_p": "p.Thr1365Arg",
"transcript": "ENST00000373198.8",
"protein_id": "ENSP00000362294.4",
"transcript_support_level": 1,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373198.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "n.*3904C>G",
"hgvs_p": null,
"transcript": "ENST00000617474.1",
"protein_id": "ENSP00000484248.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "n.*3904C>G",
"hgvs_p": null,
"transcript": "ENST00000617474.1",
"protein_id": "ENSP00000484248.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617474.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4094C>G",
"hgvs_p": "p.Thr1365Arg",
"transcript": "NM_001394024.1",
"protein_id": "NP_001380953.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394024.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4094C>G",
"hgvs_p": "p.Thr1365Arg",
"transcript": "NM_133170.4",
"protein_id": "NP_573400.3",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133170.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4067C>G",
"hgvs_p": "p.Thr1356Arg",
"transcript": "ENST00000373184.5",
"protein_id": "ENSP00000362280.1",
"transcript_support_level": 5,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4067,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373184.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4064C>G",
"hgvs_p": "p.Thr1355Arg",
"transcript": "ENST00000356100.6",
"protein_id": "ENSP00000348408.2",
"transcript_support_level": 5,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4064,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356100.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4061C>G",
"hgvs_p": "p.Thr1354Arg",
"transcript": "NM_001394025.1",
"protein_id": "NP_001380954.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1449,
"cds_start": 4061,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394025.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4034C>G",
"hgvs_p": "p.Thr1345Arg",
"transcript": "ENST00000373190.5",
"protein_id": "ENSP00000362286.1",
"transcript_support_level": 5,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4034,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373190.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4007C>G",
"hgvs_p": "p.Thr1336Arg",
"transcript": "ENST00000373201.5",
"protein_id": "ENSP00000362297.1",
"transcript_support_level": 5,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1431,
"cds_start": 4007,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373201.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4082C>G",
"hgvs_p": "p.Thr1361Arg",
"transcript": "XM_017027611.2",
"protein_id": "XP_016883100.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1456,
"cds_start": 4082,
"cds_end": null,
"cds_length": 4371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027611.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4079C>G",
"hgvs_p": "p.Thr1360Arg",
"transcript": "XM_017027612.2",
"protein_id": "XP_016883101.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4079,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027612.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4079C>G",
"hgvs_p": "p.Thr1360Arg",
"transcript": "XM_047439846.1",
"protein_id": "XP_047295802.1",
"transcript_support_level": null,
"aa_start": 1360,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4079,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439846.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4076C>G",
"hgvs_p": "p.Thr1359Arg",
"transcript": "XM_047439847.1",
"protein_id": "XP_047295803.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4076,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439847.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4034C>G",
"hgvs_p": "p.Thr1345Arg",
"transcript": "XM_047439848.1",
"protein_id": "XP_047295804.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4034,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439848.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"hgvs_c": "c.4022C>G",
"hgvs_p": "p.Thr1341Arg",
"transcript": "XM_017027613.2",
"protein_id": "XP_016883102.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1436,
"cds_start": 4022,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027613.2"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC101927182",
"gene_hgnc_id": null,
"hgvs_c": "n.280+2745G>C",
"hgvs_p": null,
"transcript": "XR_001754608.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001754608.2"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC101927182",
"gene_hgnc_id": null,
"hgvs_c": "n.373-5798G>C",
"hgvs_p": null,
"transcript": "XR_001754609.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001754609.2"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC101927182",
"gene_hgnc_id": null,
"hgvs_c": "n.378-5798G>C",
"hgvs_p": null,
"transcript": "XR_001754611.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001754611.2"
},
{
"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": 6,
"intron_rank": 2,
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"gene_symbol": "LOC101927182",
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"hgvs_c": "n.280+2745G>C",
"hgvs_p": null,
"transcript": "XR_001754612.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001754612.2"
},
{
"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": 7,
"intron_rank": 2,
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"gene_symbol": "LOC101927182",
"gene_hgnc_id": null,
"hgvs_c": "n.280+2745G>C",
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"transcript": "XR_244179.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_244179.4"
}
],
"gene_symbol": "PTPRT",
"gene_hgnc_id": 9682,
"dbsnp": "rs199947379",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5397630929946899,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
"alphamissense_score": 0.6376,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.98,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_133170.4",
"gene_symbol": "PTPRT",
"hgnc_id": 9682,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4094C>G",
"hgvs_p": "p.Thr1365Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_244179.4",
"gene_symbol": "LOC101927182",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.280+2745G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}