← 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: 7-56021119-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=56021119&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 56021119,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000275605.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_004577.4",
"protein_id": "NP_004568.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": "ENST00000275605.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000275605.8",
"protein_id": "ENSP00000275605.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": "NM_004577.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000395471.7",
"protein_id": "ENSP00000378854.3",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370503.1",
"protein_id": "NP_001357432.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370504.1",
"protein_id": "NP_001357433.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370505.1",
"protein_id": "NP_001357434.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370506.1",
"protein_id": "NP_001357435.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370507.1",
"protein_id": "NP_001357436.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370508.1",
"protein_id": "NP_001357437.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370509.1",
"protein_id": "NP_001357438.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370510.1",
"protein_id": "NP_001357439.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370511.1",
"protein_id": "NP_001357440.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370512.1",
"protein_id": "NP_001357441.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370513.1",
"protein_id": "NP_001357442.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370514.1",
"protein_id": "NP_001357443.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370515.1",
"protein_id": "NP_001357444.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370516.1",
"protein_id": "NP_001357445.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370517.1",
"protein_id": "NP_001357446.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370518.1",
"protein_id": "NP_001357447.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370519.1",
"protein_id": "NP_001357448.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370520.1",
"protein_id": "NP_001357449.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370521.1",
"protein_id": "NP_001357450.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "NM_001370522.1",
"protein_id": "NP_001357451.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000421626.5",
"protein_id": "ENSP00000398653.1",
"transcript_support_level": 4,
"aa_start": 32,
"aa_end": null,
"aa_length": 186,
"cds_start": 94,
"cds_end": null,
"cds_length": 562,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000419984.6",
"protein_id": "ENSP00000399660.2",
"transcript_support_level": 3,
"aa_start": 32,
"aa_end": null,
"aa_length": 45,
"cds_start": 94,
"cds_end": null,
"cds_length": 140,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "ENST00000421312.5",
"protein_id": "ENSP00000390952.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 45,
"cds_start": 94,
"cds_end": null,
"cds_length": 140,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_017012467.3",
"protein_id": "XP_016867956.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420644.1",
"protein_id": "XP_047276600.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420645.1",
"protein_id": "XP_047276601.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420646.1",
"protein_id": "XP_047276602.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420647.1",
"protein_id": "XP_047276603.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420648.1",
"protein_id": "XP_047276604.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420649.1",
"protein_id": "XP_047276605.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420650.1",
"protein_id": "XP_047276606.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 225,
"cds_start": 94,
"cds_end": null,
"cds_length": 678,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_006715761.3",
"protein_id": "XP_006715824.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 94,
"cds_end": null,
"cds_length": 543,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_017012468.3",
"protein_id": "XP_016867957.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 94,
"cds_end": null,
"cds_length": 543,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_017012469.3",
"protein_id": "XP_016867958.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 94,
"cds_end": null,
"cds_length": 543,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420651.1",
"protein_id": "XP_047276607.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 94,
"cds_end": null,
"cds_length": 543,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420652.1",
"protein_id": "XP_047276608.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 94,
"cds_end": null,
"cds_length": 543,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420653.1",
"protein_id": "XP_047276609.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 94,
"cds_end": null,
"cds_length": 543,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn",
"transcript": "XM_047420654.1",
"protein_id": "XP_047276610.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 114,
"cds_start": 94,
"cds_end": null,
"cds_length": 345,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "n.94G>A",
"hgvs_p": null,
"transcript": "ENST00000427797.5",
"protein_id": "ENSP00000403431.1",
"transcript_support_level": 3,
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "n.94G>A",
"hgvs_p": null,
"transcript": "ENST00000437355.6",
"protein_id": "ENSP00000401639.2",
"transcript_support_level": 5,
"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": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "n.212-5948G>A",
"hgvs_p": null,
"transcript": "ENST00000459834.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.*62G>A",
"hgvs_p": null,
"transcript": "ENST00000424596.1",
"protein_id": "ENSP00000390452.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 9,
"cds_start": -4,
"cds_end": null,
"cds_length": 32,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.*87G>A",
"hgvs_p": null,
"transcript": "ENST00000413218.5",
"protein_id": "ENSP00000404674.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 1,
"cds_start": -4,
"cds_end": null,
"cds_length": 7,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.*87G>A",
"hgvs_p": null,
"transcript": "ENST00000416592.1",
"protein_id": "ENSP00000405538.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1,
"cds_start": -4,
"cds_end": null,
"cds_length": 7,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"dbsnp": "rs104894035",
"frequency_reference_population": 0.00047368422,
"hom_count_reference_population": 0,
"allele_count_reference_population": 72,
"gnomad_exomes_af": 0.0000239483,
"gnomad_genomes_af": 0.000473684,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 72,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09967949986457825,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.661,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8379,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000275605.8",
"gene_symbol": "PSPH",
"hgnc_id": 9577,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.94G>A",
"hgvs_p": "p.Asp32Asn"
}
],
"clinvar_disease": "Deficiency of phosphoserine phosphatase,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Deficiency of phosphoserine phosphatase|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}