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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: 14-24097019-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24097019&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24097019,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001308054.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "NM_004563.4",
"protein_id": "NP_004554.3",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 640,
"cds_start": 157,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216780.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004563.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000216780.9",
"protein_id": "ENSP00000216780.4",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 640,
"cds_start": 157,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004563.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216780.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000396973.8",
"protein_id": "ENSP00000380171.4",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 441,
"cds_start": 157,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396973.8"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.-27-14144G>A",
"hgvs_p": null,
"transcript": "NM_001354768.3",
"protein_id": "NP_001341697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000561028.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354768.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.-27-14144G>A",
"hgvs_p": null,
"transcript": "ENST00000561028.6",
"protein_id": "ENSP00000454062.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001354768.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561028.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "NM_001308054.2",
"protein_id": "NP_001294983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308054.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "ENST00000545054.6",
"protein_id": "ENSP00000441826.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545054.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "ENST00000558096.5",
"protein_id": "ENSP00000453656.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558096.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "ENST00000560736.5",
"protein_id": "ENSP00000453998.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560736.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "ENST00000559837.5",
"protein_id": "ENSP00000453751.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": null,
"cds_end": null,
"cds_length": 322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559837.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "XM_047431428.1",
"protein_id": "XP_047287384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.-246C>T",
"hgvs_p": null,
"transcript": "XM_047431429.1",
"protein_id": "XP_047287385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431429.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000905569.1",
"protein_id": "ENSP00000575628.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 655,
"cds_start": 157,
"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": "ENST00000905569.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000905566.1",
"protein_id": "ENSP00000575625.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 637,
"cds_start": 157,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905566.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000958076.1",
"protein_id": "ENSP00000628135.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 574,
"cds_start": 157,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958076.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000905563.1",
"protein_id": "ENSP00000575622.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 567,
"cds_start": 157,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905563.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000905567.1",
"protein_id": "ENSP00000575626.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 549,
"cds_start": 157,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905567.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000905564.1",
"protein_id": "ENSP00000575623.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 535,
"cds_start": 157,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905564.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000905565.1",
"protein_id": "ENSP00000575624.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 523,
"cds_start": 157,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905565.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Arg65Cys",
"transcript": "ENST00000559250.5",
"protein_id": "ENSP00000453444.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 509,
"cds_start": 193,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559250.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "ENST00000934106.1",
"protein_id": "ENSP00000604165.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 491,
"cds_start": 157,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934106.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53Cys",
"transcript": "NM_001018073.3",
"protein_id": "NP_001018083.2",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 441,
"cds_start": 157,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
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"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "n.*284C>T",
"hgvs_p": null,
"transcript": "ENST00000559584.5",
"protein_id": "ENSP00000452748.1",
"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": "ENST00000559584.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"hgvs_c": "n.*108C>T",
"hgvs_p": null,
"transcript": "ENST00000560106.5",
"protein_id": "ENSP00000454020.1",
"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": "ENST00000560106.5"
}
],
"gene_symbol": "PCK2",
"gene_hgnc_id": 8725,
"dbsnp": "rs201059299",
"frequency_reference_population": 0.000027891618,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000266824,
"gnomad_genomes_af": 0.0000395392,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23382171988487244,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.0989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.213,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001308054.2",
"gene_symbol": "PCK2",
"hgnc_id": 8725,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-246C>T",
"hgvs_p": null
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_006177.5",
"gene_symbol": "NRL",
"hgnc_id": 8002,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-253-12274G>A",
"hgvs_p": null
}
],
"clinvar_disease": " mitochondrial,Phosphoenolpyruvate carboxykinase deficiency,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Phosphoenolpyruvate carboxykinase deficiency, mitochondrial|not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}