← 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: X-153670772-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153670772&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153670772,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001039582.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "NM_001366977.1",
"protein_id": "NP_001353906.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340888.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366977.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000340888.8",
"protein_id": "ENSP00000340586.4",
"transcript_support_level": 5,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366977.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340888.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "n.1574G>A",
"hgvs_p": null,
"transcript": "ENST00000472324.5",
"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": "ENST00000472324.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372Gln",
"transcript": "NM_001039582.3",
"protein_id": "NP_001034671.3",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 426,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039582.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372Gln",
"transcript": "ENST00000447676.6",
"protein_id": "ENSP00000405950.2",
"transcript_support_level": 2,
"aa_start": 372,
"aa_end": null,
"aa_length": 426,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447676.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Gln",
"transcript": "ENST00000955624.1",
"protein_id": "ENSP00000625683.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 372,
"cds_start": 953,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955624.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.935G>A",
"hgvs_p": "p.Arg312Gln",
"transcript": "ENST00000370142.5",
"protein_id": "ENSP00000359161.1",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 366,
"cds_start": 935,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370142.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306Gln",
"transcript": "NM_001135740.2",
"protein_id": "NP_001129212.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 360,
"cds_start": 917,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135740.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306Gln",
"transcript": "ENST00000370145.8",
"protein_id": "ENSP00000359164.4",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 360,
"cds_start": 917,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370145.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "NM_001366975.1",
"protein_id": "NP_001353904.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366975.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "NM_001366976.1",
"protein_id": "NP_001353905.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366976.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "NM_001366978.1",
"protein_id": "NP_001353907.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366978.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "NM_001366979.1",
"protein_id": "NP_001353908.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366979.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "NM_001366980.1",
"protein_id": "NP_001353909.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366980.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000370150.5",
"protein_id": "ENSP00000359169.1",
"transcript_support_level": 5,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370150.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000870375.1",
"protein_id": "ENSP00000540434.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870375.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000870376.1",
"protein_id": "ENSP00000540435.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870376.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000870377.1",
"protein_id": "ENSP00000540436.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870377.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000870378.1",
"protein_id": "ENSP00000540437.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870378.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000870379.1",
"protein_id": "ENSP00000540438.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870379.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000870380.1",
"protein_id": "ENSP00000540439.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870380.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000922477.1",
"protein_id": "ENSP00000592536.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922477.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000922478.1",
"protein_id": "ENSP00000592537.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922478.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000922479.1",
"protein_id": "ENSP00000592538.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922479.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000922480.1",
"protein_id": "ENSP00000592539.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922480.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000955616.1",
"protein_id": "ENSP00000625675.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955616.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000955617.1",
"protein_id": "ENSP00000625676.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955617.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000955618.1",
"protein_id": "ENSP00000625677.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955618.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000955619.1",
"protein_id": "ENSP00000625678.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955619.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000955620.1",
"protein_id": "ENSP00000625679.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955620.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000955621.1",
"protein_id": "ENSP00000625680.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955621.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000955622.1",
"protein_id": "ENSP00000625681.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955622.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "ENST00000955623.1",
"protein_id": "ENSP00000625682.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955623.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.59G>A",
"hgvs_p": "p.Arg20Gln",
"transcript": "ENST00000438984.5",
"protein_id": "ENSP00000390812.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 80,
"cds_start": 59,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438984.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307Gln",
"transcript": "XM_011531108.3",
"protein_id": "XP_011529410.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 361,
"cds_start": 920,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531108.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_011531107.3",
"protein_id": "XP_011529409.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531107.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_011531111.3",
"protein_id": "XP_011529413.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531111.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_011531112.3",
"protein_id": "XP_011529414.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531112.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_017029279.2",
"protein_id": "XP_016884768.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029279.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_024452340.2",
"protein_id": "XP_024308108.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452340.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_047441836.1",
"protein_id": "XP_047297792.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441836.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_047441837.1",
"protein_id": "XP_047297793.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441837.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_047441838.1",
"protein_id": "XP_047297794.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441838.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289Gln",
"transcript": "XM_047441839.1",
"protein_id": "XP_047297795.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 866,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "n.993G>A",
"hgvs_p": null,
"transcript": "ENST00000466074.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000466074.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "n.1344G>A",
"hgvs_p": null,
"transcript": "ENST00000488994.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000488994.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"hgvs_c": "n.*184G>A",
"hgvs_p": null,
"transcript": "ENST00000473680.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000473680.1"
}
],
"gene_symbol": "PNCK",
"gene_hgnc_id": 13415,
"dbsnp": "rs146644423",
"frequency_reference_population": 0.000073585405,
"hom_count_reference_population": 24,
"allele_count_reference_population": 89,
"gnomad_exomes_af": 0.0000401087,
"gnomad_genomes_af": 0.000400146,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 45,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01944991946220398,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0684,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.549,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001039582.3",
"gene_symbol": "PNCK",
"hgnc_id": 13415,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}