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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: 7-44145630-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44145630&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44145630,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000403799.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Val374Leu",
"transcript": "NM_000162.5",
"protein_id": "NP_000153.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 465,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": "ENST00000403799.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Val374Leu",
"transcript": "ENST00000403799.8",
"protein_id": "ENSP00000384247.3",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 465,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": "NM_000162.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "n.*1118G>T",
"hgvs_p": null,
"transcript": "ENST00000395796.8",
"protein_id": "ENSP00000379142.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "n.500G>T",
"hgvs_p": null,
"transcript": "ENST00000459642.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "n.*1118G>T",
"hgvs_p": null,
"transcript": "ENST00000395796.8",
"protein_id": "ENSP00000379142.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.-21G>T",
"hgvs_p": null,
"transcript": "NM_001354802.1",
"protein_id": "NP_001341731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.-21G>T",
"hgvs_p": null,
"transcript": "XM_024446707.2",
"protein_id": "XP_024302475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Leu",
"transcript": "ENST00000671824.1",
"protein_id": "ENSP00000500264.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 486,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1123G>T",
"hgvs_p": "p.Val375Leu",
"transcript": "NM_033507.3",
"protein_id": "NP_277042.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 466,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1123G>T",
"hgvs_p": "p.Val375Leu",
"transcript": "ENST00000345378.7",
"protein_id": "ENSP00000223366.2",
"transcript_support_level": 2,
"aa_start": 375,
"aa_end": null,
"aa_length": 466,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1117G>T",
"hgvs_p": "p.Val373Leu",
"transcript": "NM_033508.3",
"protein_id": "NP_277043.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 464,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Val374Leu",
"transcript": "NM_001354800.1",
"protein_id": "NP_001341729.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 456,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Val374Leu",
"transcript": "ENST00000673284.1",
"protein_id": "ENSP00000499852.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 456,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.1069G>T",
"hgvs_p": "p.Val357Leu",
"transcript": "ENST00000437084.1",
"protein_id": "ENSP00000402840.1",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 448,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.154G>T",
"hgvs_p": "p.Val52Leu",
"transcript": "NM_001354803.2",
"protein_id": "NP_001341732.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 143,
"cds_start": 154,
"cds_end": null,
"cds_length": 432,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.154G>T",
"hgvs_p": "p.Val52Leu",
"transcript": "ENST00000336642.9",
"protein_id": "ENSP00000338009.5",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 143,
"cds_start": 154,
"cds_end": null,
"cds_length": 432,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Val37Leu",
"transcript": "NM_001354801.1",
"protein_id": "NP_001341730.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 128,
"cds_start": 109,
"cds_end": null,
"cds_length": 387,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "n.*240G>T",
"hgvs_p": null,
"transcript": "ENST00000616242.5",
"protein_id": "ENSP00000482149.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "n.132G>T",
"hgvs_p": null,
"transcript": "ENST00000672743.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "n.346G>T",
"hgvs_p": null,
"transcript": "ENST00000683378.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300758",
"gene_hgnc_id": null,
"hgvs_c": "n.57C>A",
"hgvs_p": null,
"transcript": "ENST00000773856.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300758",
"gene_hgnc_id": null,
"hgvs_c": "n.56C>A",
"hgvs_p": null,
"transcript": "ENST00000773857.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.-21G>T",
"hgvs_p": null,
"transcript": "NM_001354802.1",
"protein_id": "NP_001341731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
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"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "c.-21G>T",
"hgvs_p": null,
"transcript": "XM_024446707.2",
"protein_id": "XP_024302475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": -4,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "n.*240G>T",
"hgvs_p": null,
"transcript": "ENST00000616242.5",
"protein_id": "ENSP00000482149.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"hgvs_c": "n.*14G>T",
"hgvs_p": null,
"transcript": "ENST00000473353.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GCK",
"gene_hgnc_id": 4195,
"dbsnp": "rs1415041911",
"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": 0.9670543074607849,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.901,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8047,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.835,
"phylop100way_prediction": "Pathogenic",
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PS1",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000403799.8",
"gene_symbol": "GCK",
"hgnc_id": 4195,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1120G>T",
"hgvs_p": "p.Val374Leu"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000773856.1",
"gene_symbol": "ENSG00000300758",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.57C>A",
"hgvs_p": null
}
],
"clinvar_disease": " Recessive,Hyperinsulinism due to glucokinase deficiency,Maturity-onset diabetes of the young type 2,Permanent neonatal diabetes mellitus,Transient Neonatal Diabetes",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Hyperinsulinism due to glucokinase deficiency|Maturity-onset diabetes of the young type 2|Permanent neonatal diabetes mellitus|Transient Neonatal Diabetes, Recessive",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}