← 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: 10-3067617-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3067617&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 3067617,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001410880.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "NM_002627.5",
"protein_id": "NP_002618.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 784,
"cds_start": 22,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": "ENST00000381125.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002627.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000381125.9",
"protein_id": "ENSP00000370517.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 784,
"cds_start": 22,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": "NM_002627.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381125.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "NM_001410880.1",
"protein_id": "NP_001397809.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 835,
"cds_start": 22,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410880.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000699222.1",
"protein_id": "ENSP00000514216.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 835,
"cds_start": 22,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699222.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000963518.1",
"protein_id": "ENSP00000633577.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 827,
"cds_start": 22,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963518.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000963522.1",
"protein_id": "ENSP00000633581.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 817,
"cds_start": 22,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963522.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000963523.1",
"protein_id": "ENSP00000633582.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 816,
"cds_start": 22,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963523.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000963519.1",
"protein_id": "ENSP00000633578.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 815,
"cds_start": 22,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 112,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963519.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000963520.1",
"protein_id": "ENSP00000633579.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 798,
"cds_start": 22,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 98,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963520.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000867378.1",
"protein_id": "ENSP00000537437.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 784,
"cds_start": 22,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867378.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000867383.1",
"protein_id": "ENSP00000537442.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 783,
"cds_start": 22,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867383.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000867380.1",
"protein_id": "ENSP00000537439.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 782,
"cds_start": 22,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867380.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000867379.1",
"protein_id": "ENSP00000537438.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 769,
"cds_start": 22,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867379.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "NM_001323068.2",
"protein_id": "NP_001309997.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 733,
"cds_start": 22,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323068.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000867382.1",
"protein_id": "ENSP00000537441.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 733,
"cds_start": 22,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867382.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000867381.1",
"protein_id": "ENSP00000537440.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 719,
"cds_start": 22,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867381.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "ENST00000963521.1",
"protein_id": "ENSP00000633580.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 509,
"cds_start": 22,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 87,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963521.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr",
"transcript": "XM_005252466.5",
"protein_id": "XP_005252523.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 784,
"cds_start": 22,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252466.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.-209G>A",
"hgvs_p": null,
"transcript": "NM_001323071.2",
"protein_id": "NP_001310000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323071.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.-481G>A",
"hgvs_p": null,
"transcript": "NM_001323069.2",
"protein_id": "NP_001309998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": null,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323069.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.-3+1195G>A",
"hgvs_p": null,
"transcript": "ENST00000607886.5",
"protein_id": "ENSP00000477128.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607886.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKP-DT",
"gene_hgnc_id": 55177,
"hgvs_c": "n.292+304C>T",
"hgvs_p": null,
"transcript": "ENST00000820060.1",
"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": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000820060.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKP-DT",
"gene_hgnc_id": 55177,
"hgvs_c": "n.292+304C>T",
"hgvs_p": null,
"transcript": "ENST00000820061.1",
"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": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000820061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKP-DT",
"gene_hgnc_id": 55177,
"hgvs_c": "n.234+304C>T",
"hgvs_p": null,
"transcript": "ENST00000820062.1",
"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": 776,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000820062.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKP-DT",
"gene_hgnc_id": 55177,
"hgvs_c": "n.213+304C>T",
"hgvs_p": null,
"transcript": "ENST00000820063.1",
"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": 886,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000820063.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PFKP-DT",
"gene_hgnc_id": 55177,
"hgvs_c": "n.98+1869C>T",
"hgvs_p": null,
"transcript": "ENST00000820070.1",
"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": 843,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000820070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "n.-55G>A",
"hgvs_p": null,
"transcript": "ENST00000495715.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 143,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495715.1"
}
],
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"dbsnp": "rs984216789",
"frequency_reference_population": 7.259992e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.25999e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06030231714248657,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.058,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001410880.1",
"gene_symbol": "PFKP",
"hgnc_id": 8878,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Ala8Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000820060.1",
"gene_symbol": "PFKP-DT",
"hgnc_id": 55177,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.292+304C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}