← Back to variant description
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: 12-48145096-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48145096&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48145096,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000359794.11",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "NM_000289.6",
"protein_id": "NP_000280.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": "ENST00000359794.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "ENST00000359794.11",
"protein_id": "ENSP00000352842.5",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": "NM_000289.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "ENST00000312352.11",
"protein_id": "ENSP00000309438.7",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "ENST00000547587.5",
"protein_id": "ENSP00000449426.1",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 2867,
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.2382G>T",
"hgvs_p": null,
"transcript": "ENST00000546964.5",
"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": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2367G>T",
"hgvs_p": "p.Trp789Cys",
"transcript": "NM_001354735.1",
"protein_id": "NP_001341664.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 883,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2367G>T",
"hgvs_p": "p.Trp789Cys",
"transcript": "NM_001354736.1",
"protein_id": "NP_001341665.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 883,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2367G>T",
"hgvs_p": "p.Trp789Cys",
"transcript": "ENST00000642730.1",
"protein_id": "ENSP00000496597.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 883,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2280G>T",
"hgvs_p": "p.Trp760Cys",
"transcript": "ENST00000550257.7",
"protein_id": "ENSP00000447997.3",
"transcript_support_level": 4,
"aa_start": 760,
"aa_end": null,
"aa_length": 854,
"cds_start": 2280,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2271G>T",
"hgvs_p": "p.Trp757Cys",
"transcript": "NM_001166686.2",
"protein_id": "NP_001160158.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 851,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2271G>T",
"hgvs_p": "p.Trp757Cys",
"transcript": "NM_001354737.1",
"protein_id": "NP_001341666.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 851,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2271G>T",
"hgvs_p": "p.Trp757Cys",
"transcript": "NM_001354738.1",
"protein_id": "NP_001341667.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 851,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2271G>T",
"hgvs_p": "p.Trp757Cys",
"transcript": "NM_001354739.1",
"protein_id": "NP_001341668.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 851,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2271G>T",
"hgvs_p": "p.Trp757Cys",
"transcript": "ENST00000340802.12",
"protein_id": "ENSP00000345771.6",
"transcript_support_level": 2,
"aa_start": 757,
"aa_end": null,
"aa_length": 851,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2202G>T",
"hgvs_p": "p.Trp734Cys",
"transcript": "NM_001354740.1",
"protein_id": "NP_001341669.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 828,
"cds_start": 2202,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2178G>T",
"hgvs_p": "p.Trp726Cys",
"transcript": "NM_001439058.1",
"protein_id": "NP_001425987.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 820,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2082G>T",
"hgvs_p": "p.Trp694Cys",
"transcript": "NM_001354741.2",
"protein_id": "NP_001341670.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 788,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "NM_001166687.2",
"protein_id": "NP_001160159.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "NM_001166688.2",
"protein_id": "NP_001160160.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "NM_001354742.2",
"protein_id": "NP_001341671.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "NM_001354743.2",
"protein_id": "NP_001341672.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "NM_001354744.2",
"protein_id": "NP_001341673.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "ENST00000550345.6",
"protein_id": "ENSP00000450369.2",
"transcript_support_level": 4,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "ENST00000550924.6",
"protein_id": "ENSP00000446945.2",
"transcript_support_level": 4,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "ENST00000551339.6",
"protein_id": "ENSP00000448253.2",
"transcript_support_level": 4,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1971G>T",
"hgvs_p": "p.Trp657Cys",
"transcript": "NM_001354745.2",
"protein_id": "NP_001341674.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 751,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1965G>T",
"hgvs_p": "p.Trp655Cys",
"transcript": "NM_001363619.2",
"protein_id": "NP_001350548.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 749,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1965G>T",
"hgvs_p": "p.Trp655Cys",
"transcript": "ENST00000551804.5",
"protein_id": "ENSP00000448177.1",
"transcript_support_level": 5,
"aa_start": 655,
"aa_end": null,
"aa_length": 749,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1932G>T",
"hgvs_p": "p.Trp644Cys",
"transcript": "NM_001354746.2",
"protein_id": "NP_001341675.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 738,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1908G>T",
"hgvs_p": "p.Trp636Cys",
"transcript": "NM_001354747.2",
"protein_id": "NP_001341676.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 730,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1908G>T",
"hgvs_p": "p.Trp636Cys",
"transcript": "NM_001354748.2",
"protein_id": "NP_001341677.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 730,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.1800G>T",
"hgvs_p": "p.Trp600Cys",
"transcript": "ENST00000549941.7",
"protein_id": "ENSP00000446829.3",
"transcript_support_level": 3,
"aa_start": 600,
"aa_end": null,
"aa_length": 694,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2577G>T",
"hgvs_p": "p.Trp859Cys",
"transcript": "XM_047428999.1",
"protein_id": "XP_047284955.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 953,
"cds_start": 2577,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2484G>T",
"hgvs_p": "p.Trp828Cys",
"transcript": "XM_011538487.2",
"protein_id": "XP_011536789.2",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 922,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2481G>T",
"hgvs_p": "p.Trp827Cys",
"transcript": "XM_047429000.1",
"protein_id": "XP_047284956.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 921,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2610,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2376G>T",
"hgvs_p": "p.Trp792Cys",
"transcript": "XM_047429001.1",
"protein_id": "XP_047284957.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 886,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2367G>T",
"hgvs_p": "p.Trp789Cys",
"transcript": "XM_005268974.2",
"protein_id": "XP_005269031.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 883,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2367G>T",
"hgvs_p": "p.Trp789Cys",
"transcript": "XM_005268976.4",
"protein_id": "XP_005269033.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 883,
"cds_start": 2367,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2280G>T",
"hgvs_p": "p.Trp760Cys",
"transcript": "XM_024449020.2",
"protein_id": "XP_024304788.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 854,
"cds_start": 2280,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2187G>T",
"hgvs_p": "p.Trp729Cys",
"transcript": "XM_047429002.1",
"protein_id": "XP_047284958.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 823,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2157G>T",
"hgvs_p": "p.Trp719Cys",
"transcript": "XM_024449021.2",
"protein_id": "XP_024304789.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 813,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2109G>T",
"hgvs_p": "p.Trp703Cys",
"transcript": "XM_047429003.1",
"protein_id": "XP_047284959.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 797,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2064G>T",
"hgvs_p": "p.Trp688Cys",
"transcript": "XM_047429004.1",
"protein_id": "XP_047284960.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 782,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys",
"transcript": "XM_024449022.2",
"protein_id": "XP_024304790.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 780,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 3158,
"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": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.*2326G>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3579,
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.2361G>T",
"hgvs_p": null,
"transcript": "NR_148954.2",
"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": 3342,
"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": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.3131G>T",
"hgvs_p": null,
"transcript": "NR_148955.1",
"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": 4112,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.2287G>T",
"hgvs_p": null,
"transcript": "NR_148956.2",
"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": 3268,
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.2516G>T",
"hgvs_p": null,
"transcript": "NR_148957.2",
"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": 3497,
"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": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.2264G>T",
"hgvs_p": null,
"transcript": "NR_148958.2",
"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": 3245,
"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": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.2190G>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"hgvs_c": "n.*2326G>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PFKM",
"gene_hgnc_id": 8877,
"dbsnp": "rs121918196",
"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": 0.983222246170044,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.81,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9921,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.94,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.13,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000359794.11",
"gene_symbol": "PFKM",
"hgnc_id": 8877,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Trp686Cys"
}
],
"clinvar_disease": " type VII,Glycogen storage disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Glycogen storage disease, type VII",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}