← 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: 10-6221494-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=6221494&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 6221494,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001363545.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "NM_004566.4",
"protein_id": "NP_004557.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 520,
"cds_start": 945,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379775.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004566.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000379775.9",
"protein_id": "ENSP00000369100.4",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 520,
"cds_start": 945,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004566.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379775.9"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Tyr295Tyr",
"transcript": "ENST00000379789.8",
"protein_id": "ENSP00000369115.4",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 500,
"cds_start": 885,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379789.8"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "NM_001363545.2",
"protein_id": "NP_001350474.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 568,
"cds_start": 945,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363545.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000640683.1",
"protein_id": "ENSP00000492001.1",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 568,
"cds_start": 945,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640683.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Tyr329Tyr",
"transcript": "NM_001282630.3",
"protein_id": "NP_001269559.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 534,
"cds_start": 987,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282630.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Tyr329Tyr",
"transcript": "ENST00000536985.6",
"protein_id": "ENSP00000443319.2",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 534,
"cds_start": 987,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536985.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000937282.1",
"protein_id": "ENSP00000607341.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 531,
"cds_start": 945,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937282.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000379785.5",
"protein_id": "ENSP00000369111.1",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 526,
"cds_start": 945,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379785.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000626882.2",
"protein_id": "ENSP00000487277.1",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 526,
"cds_start": 945,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626882.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000900115.1",
"protein_id": "ENSP00000570174.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 520,
"cds_start": 945,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900115.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000937281.1",
"protein_id": "ENSP00000607340.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 520,
"cds_start": 945,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937281.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000937283.1",
"protein_id": "ENSP00000607342.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 517,
"cds_start": 945,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937283.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "NM_001314063.2",
"protein_id": "NP_001300992.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 514,
"cds_start": 945,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314063.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000360521.7",
"protein_id": "ENSP00000353712.2",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 514,
"cds_start": 945,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360521.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000317350.8",
"protein_id": "ENSP00000369105.3",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 513,
"cds_start": 945,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317350.8"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Tyr295Tyr",
"transcript": "NM_001145443.3",
"protein_id": "NP_001138915.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 500,
"cds_start": 885,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145443.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Tyr295Tyr",
"transcript": "NM_001323016.2",
"protein_id": "NP_001309945.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 494,
"cds_start": 885,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323016.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000900116.1",
"protein_id": "ENSP00000570175.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 485,
"cds_start": 945,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900116.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000625260.2",
"protein_id": "ENSP00000486311.1",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 455,
"cds_start": 945,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625260.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "NM_001323017.2",
"protein_id": "NP_001309946.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 337,
"cds_start": 396,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323017.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Tyr30Tyr",
"transcript": "ENST00000450232.1",
"protein_id": "ENSP00000390285.1",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 142,
"cds_start": 90,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450232.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Tyr296Tyr",
"transcript": "XM_017016329.2",
"protein_id": "XP_016871818.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 501,
"cds_start": 888,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016329.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Tyr295Tyr",
"transcript": "XM_047425341.1",
"protein_id": "XP_047281297.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 490,
"cds_start": 885,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425341.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "XM_047425342.1",
"protein_id": "XP_047281298.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 485,
"cds_start": 945,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425342.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.828C>T",
"hgvs_p": "p.Tyr276Tyr",
"transcript": "XM_047425343.1",
"protein_id": "XP_047281299.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 481,
"cds_start": 828,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425343.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "XM_047425344.1",
"protein_id": "XP_047281300.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 479,
"cds_start": 945,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425344.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Tyr296Tyr",
"transcript": "XM_047425345.1",
"protein_id": "XP_047281301.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 466,
"cds_start": 888,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425345.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Tyr295Tyr",
"transcript": "XM_047425346.1",
"protein_id": "XP_047281302.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 465,
"cds_start": 885,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425346.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "XM_005252464.2",
"protein_id": "XP_005252521.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 462,
"cds_start": 945,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252464.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Tyr295Tyr",
"transcript": "XM_047425347.1",
"protein_id": "XP_047281303.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 442,
"cds_start": 885,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425347.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "XM_011519493.2",
"protein_id": "XP_011517795.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 427,
"cds_start": 945,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519493.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.396C>T",
"hgvs_p": "p.Tyr132Tyr",
"transcript": "XM_047425349.1",
"protein_id": "XP_047281305.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 337,
"cds_start": 396,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "n.945C>T",
"hgvs_p": null,
"transcript": "ENST00000461744.5",
"protein_id": "ENSP00000433771.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461744.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "n.945C>T",
"hgvs_p": null,
"transcript": "ENST00000467491.5",
"protein_id": "ENSP00000434628.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467491.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "n.945C>T",
"hgvs_p": null,
"transcript": "ENST00000477914.5",
"protein_id": "ENSP00000432356.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000477914.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "n.945C>T",
"hgvs_p": null,
"transcript": "ENST00000490474.5",
"protein_id": "ENSP00000436885.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490474.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "n.1012C>T",
"hgvs_p": null,
"transcript": "NR_136554.2",
"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_136554.2"
}
],
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"dbsnp": "rs34184265",
"frequency_reference_population": 0.0019244285,
"hom_count_reference_population": 44,
"allele_count_reference_population": 3105,
"gnomad_exomes_af": 0.0018205,
"gnomad_genomes_af": 0.00292137,
"gnomad_exomes_ac": 2660,
"gnomad_genomes_ac": 445,
"gnomad_exomes_homalt": 42,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"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": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.091,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001363545.2",
"gene_symbol": "PFKFB3",
"hgnc_id": 8874,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.945C>T",
"hgvs_p": "p.Tyr315Tyr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}