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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: 12-48145699-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48145699&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48145699,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001354735.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ala778Ala",
"transcript": "NM_000289.6",
"protein_id": "NP_000280.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 780,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359794.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000289.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ala778Ala",
"transcript": "ENST00000359794.11",
"protein_id": "ENSP00000352842.5",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 780,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000289.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359794.11"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ala778Ala",
"transcript": "ENST00000312352.11",
"protein_id": "ENSP00000309438.7",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 780,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312352.11"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ala778Ala",
"transcript": "ENST00000547587.5",
"protein_id": "ENSP00000449426.1",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 780,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547587.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.2658T>G",
"hgvs_p": null,
"transcript": "ENST00000546964.5",
"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": "ENST00000546964.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2643T>G",
"hgvs_p": "p.Ala881Ala",
"transcript": "NM_001354735.1",
"protein_id": "NP_001341664.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 883,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354735.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2643T>G",
"hgvs_p": "p.Ala881Ala",
"transcript": "NM_001354736.1",
"protein_id": "NP_001341665.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 883,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354736.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2643T>G",
"hgvs_p": "p.Ala881Ala",
"transcript": "ENST00000642730.1",
"protein_id": "ENSP00000496597.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 883,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642730.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2556T>G",
"hgvs_p": "p.Ala852Ala",
"transcript": "ENST00000550257.7",
"protein_id": "ENSP00000447997.3",
"transcript_support_level": 4,
"aa_start": 852,
"aa_end": null,
"aa_length": 854,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550257.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2547T>G",
"hgvs_p": "p.Ala849Ala",
"transcript": "NM_001166686.2",
"protein_id": "NP_001160158.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 851,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166686.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2547T>G",
"hgvs_p": "p.Ala849Ala",
"transcript": "NM_001354737.1",
"protein_id": "NP_001341666.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 851,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354737.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2547T>G",
"hgvs_p": "p.Ala849Ala",
"transcript": "NM_001354738.1",
"protein_id": "NP_001341667.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 851,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354738.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2547T>G",
"hgvs_p": "p.Ala849Ala",
"transcript": "NM_001354739.1",
"protein_id": "NP_001341668.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 851,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354739.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2547T>G",
"hgvs_p": "p.Ala849Ala",
"transcript": "ENST00000340802.12",
"protein_id": "ENSP00000345771.6",
"transcript_support_level": 2,
"aa_start": 849,
"aa_end": null,
"aa_length": 851,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340802.12"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2478T>G",
"hgvs_p": "p.Ala826Ala",
"transcript": "NM_001354740.1",
"protein_id": "NP_001341669.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 828,
"cds_start": 2478,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354740.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2454T>G",
"hgvs_p": "p.Ala818Ala",
"transcript": "NM_001439058.1",
"protein_id": "NP_001425987.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 820,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439058.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2400T>G",
"hgvs_p": "p.Ala800Ala",
"transcript": "ENST00000942241.1",
"protein_id": "ENSP00000612300.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 802,
"cds_start": 2400,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942241.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2373T>G",
"hgvs_p": "p.Ala791Ala",
"transcript": "ENST00000942240.1",
"protein_id": "ENSP00000612299.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 793,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942240.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2367T>G",
"hgvs_p": "p.Ala789Ala",
"transcript": "ENST00000942236.1",
"protein_id": "ENSP00000612295.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 791,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942236.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2364T>G",
"hgvs_p": "p.Ala788Ala",
"transcript": "ENST00000873532.1",
"protein_id": "ENSP00000543591.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 790,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873532.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2358T>G",
"hgvs_p": "p.Ala786Ala",
"transcript": "NM_001354741.2",
"protein_id": "NP_001341670.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 788,
"cds_start": 2358,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354741.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2355T>G",
"hgvs_p": "p.Ala785Ala",
"transcript": "ENST00000942232.1",
"protein_id": "ENSP00000612291.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 787,
"cds_start": 2355,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"transcript": "NR_148958.2",
"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": "NR_148958.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.2466T>G",
"hgvs_p": null,
"transcript": "NR_148959.2",
"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": "NR_148959.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.*2602T>G",
"hgvs_p": null,
"transcript": "ENST00000547581.5",
"protein_id": "ENSP00000447992.1",
"transcript_support_level": 2,
"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": "ENST00000547581.5"
}
],
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"dbsnp": "rs8716",
"frequency_reference_population": 0.35298845,
"hom_count_reference_population": 106543,
"allele_count_reference_population": 569561,
"gnomad_exomes_af": 0.360027,
"gnomad_genomes_af": 0.285368,
"gnomad_exomes_ac": 526152,
"gnomad_genomes_ac": 43409,
"gnomad_exomes_homalt": 99245,
"gnomad_genomes_homalt": 7298,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.338,
"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,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001354735.1",
"gene_symbol": "PFKM",
"hgnc_id": 8877,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2643T>G",
"hgvs_p": "p.Ala881Ala"
}
],
"clinvar_disease": " type VII,Glycogen storage disease,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8 O:1",
"phenotype_combined": "not specified|Glycogen storage disease, type VII|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}