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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: 22-18936208-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=18936208&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 18936208,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016335.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "NM_016335.6",
"protein_id": "NP_057419.5",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 600,
"cds_start": 80,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357068.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016335.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000357068.11",
"protein_id": "ENSP00000349577.6",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 600,
"cds_start": 80,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016335.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357068.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000610940.4",
"protein_id": "ENSP00000480347.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 600,
"cds_start": 80,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610940.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.-52+182G>T",
"hgvs_p": null,
"transcript": "ENST00000334029.6",
"protein_id": "ENSP00000334726.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334029.6"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283809",
"gene_hgnc_id": null,
"hgvs_c": "c.514-3465C>A",
"hgvs_p": null,
"transcript": "ENST00000638240.1",
"protein_id": "ENSP00000492446.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": null,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "n.88G>T",
"hgvs_p": null,
"transcript": "ENST00000491604.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491604.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000916124.1",
"protein_id": "ENSP00000586183.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 655,
"cds_start": 80,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916124.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000881003.1",
"protein_id": "ENSP00000551062.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 607,
"cds_start": 80,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881003.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000881004.1",
"protein_id": "ENSP00000551063.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 605,
"cds_start": 80,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881004.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000881005.1",
"protein_id": "ENSP00000551064.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 598,
"cds_start": 80,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881005.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000881001.1",
"protein_id": "ENSP00000551060.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 583,
"cds_start": 80,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881001.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000881002.1",
"protein_id": "ENSP00000551061.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 561,
"cds_start": 80,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881002.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000965629.1",
"protein_id": "ENSP00000635688.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 551,
"cds_start": 80,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965629.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000916125.1",
"protein_id": "ENSP00000586184.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 546,
"cds_start": 80,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916125.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000916126.1",
"protein_id": "ENSP00000586185.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 484,
"cds_start": 80,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916126.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000965628.1",
"protein_id": "ENSP00000635687.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 455,
"cds_start": 80,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965628.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu",
"transcript": "ENST00000965627.1",
"protein_id": "ENSP00000635686.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 364,
"cds_start": 80,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965627.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.57G>T",
"hgvs_p": "p.Pro19Pro",
"transcript": "ENST00000457083.1",
"protein_id": "ENSP00000413941.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 162,
"cds_start": 57,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.-90G>T",
"hgvs_p": null,
"transcript": "NM_001368250.2",
"protein_id": "NP_001355179.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368250.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.-73G>T",
"hgvs_p": null,
"transcript": "ENST00000420436.5",
"protein_id": "ENSP00000410805.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420436.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "c.-52+182G>T",
"hgvs_p": null,
"transcript": "NM_001195226.2",
"protein_id": "NP_001182155.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195226.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"hgvs_c": "n.-66G>T",
"hgvs_p": null,
"transcript": "ENST00000482858.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482858.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "PRODH",
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"hgvs_c": "c.-67G>T",
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"transcript": "ENST00000438924.5",
"protein_id": "ENSP00000409742.1",
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": 183,
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"cds_end": null,
"cds_length": 552,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438924.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "ENSG00000284294",
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"hgvs_c": "n.-203C>A",
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"transcript": "ENST00000640084.1",
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"transcript_support_level": 5,
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"aa_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000640084.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "LOC122455341",
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"hgvs_c": "n.-215C>A",
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"transcript": "NR_173080.2",
"protein_id": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_173080.2"
}
],
"gene_symbol": "PRODH",
"gene_hgnc_id": 9453,
"dbsnp": "rs1411529753",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0605926513671875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.1113,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.237,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016335.6",
"gene_symbol": "PRODH",
"hgnc_id": 9453,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.80G>T",
"hgvs_p": "p.Arg27Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000638240.1",
"gene_symbol": "ENSG00000283809",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.514-3465C>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_173080.2",
"gene_symbol": "LOC122455341",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-215C>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000640084.1",
"gene_symbol": "ENSG00000284294",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-203C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Proline dehydrogenase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Proline dehydrogenase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}