← 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: 22-31619756-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31619756&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PISD",
"hgnc_id": 8999,
"hgvs_c": "c.1086C>G",
"hgvs_p": "p.Gly362Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001326411.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.02199999988079071,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 409,
"aa_ref": "G",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1086,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001326411.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1086C>G",
"hgvs_p": "p.Gly362Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439502.7",
"protein_coding": true,
"protein_id": "NP_001313340.1",
"strand": false,
"transcript": "NM_001326411.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 409,
"aa_ref": "G",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1086,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000439502.7",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1086C>G",
"hgvs_p": "p.Gly362Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001326411.2",
"protein_coding": true,
"protein_id": "ENSP00000391739.2",
"strand": false,
"transcript": "ENST00000439502.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 1414,
"cds_end": null,
"cds_length": 1128,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000266095.9",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Gly328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000266095.5",
"strand": false,
"transcript": "ENST00000266095.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000460723.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "n.1269C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000460723.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 404,
"aa_ref": "G",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1215,
"cds_start": 1071,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930692.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1071C>G",
"hgvs_p": "p.Gly357Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600751.1",
"strand": false,
"transcript": "ENST00000930692.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 396,
"aa_ref": "G",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1047,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892605.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1047C>G",
"hgvs_p": "p.Gly349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562664.1",
"strand": false,
"transcript": "ENST00000892605.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 388,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1023,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001326412.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1023C>G",
"hgvs_p": "p.Gly341Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313341.1",
"strand": false,
"transcript": "NM_001326412.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 388,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1023,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001326413.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1023C>G",
"hgvs_p": "p.Gly341Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313342.1",
"strand": false,
"transcript": "NM_001326413.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 388,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1023,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001326414.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1023C>G",
"hgvs_p": "p.Gly341Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313343.1",
"strand": false,
"transcript": "NM_001326414.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 388,
"aa_ref": "G",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1023,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892604.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.1023C>G",
"hgvs_p": "p.Gly341Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562663.1",
"strand": false,
"transcript": "ENST00000892604.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1128,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001326415.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Gly328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313344.1",
"strand": false,
"transcript": "NM_001326415.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1128,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001326416.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Gly328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313345.1",
"strand": false,
"transcript": "NM_001326416.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1128,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001326417.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Gly328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313346.1",
"strand": false,
"transcript": "NM_001326417.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1128,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_014338.4",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Gly328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055153.1",
"strand": false,
"transcript": "NM_014338.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1128,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_178022.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Gly328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_821141.1",
"strand": false,
"transcript": "NM_178022.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1128,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000382151.6",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Gly328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371586.2",
"strand": false,
"transcript": "ENST00000382151.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2265,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1128,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930690.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Gly328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600749.1",
"strand": false,
"transcript": "ENST00000930690.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 361,
"aa_ref": "G",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1086,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000435900.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.942C>G",
"hgvs_p": "p.Gly314Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414395.1",
"strand": false,
"transcript": "ENST00000435900.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 349,
"aa_ref": "G",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1050,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001326418.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.906C>G",
"hgvs_p": "p.Gly302Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313347.1",
"strand": false,
"transcript": "NM_001326418.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 337,
"aa_ref": "G",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1014,
"cds_start": 870,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001326419.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.870C>G",
"hgvs_p": "p.Gly290Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313348.1",
"strand": false,
"transcript": "NM_001326419.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 330,
"aa_ref": "G",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 880,
"cds_end": null,
"cds_length": 993,
"cds_start": 849,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930689.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.849C>G",
"hgvs_p": "p.Gly283Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600748.1",
"strand": false,
"transcript": "ENST00000930689.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 311,
"aa_ref": "G",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 899,
"cds_end": null,
"cds_length": 936,
"cds_start": 792,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001326420.2",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.792C>G",
"hgvs_p": "p.Gly264Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313349.1",
"strand": false,
"transcript": "NM_001326420.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 292,
"aa_ref": "G",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 752,
"cds_end": null,
"cds_length": 879,
"cds_start": 735,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000972531.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.735C>G",
"hgvs_p": "p.Gly245Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642590.1",
"strand": false,
"transcript": "ENST00000972531.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 243,
"aa_ref": "G",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 593,
"cds_end": null,
"cds_length": 732,
"cds_start": 588,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930691.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Gly196Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600750.1",
"strand": false,
"transcript": "ENST00000930691.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 296,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": null,
"cds_end": null,
"cds_length": 891,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001326421.1",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.*34C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001313350.1",
"strand": false,
"transcript": "NM_001326421.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": null,
"cds_end": null,
"cds_length": 789,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397500.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "c.*34C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380637.1",
"strand": false,
"transcript": "ENST00000397500.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000437808.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "n.*835C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396500.1",
"strand": false,
"transcript": "ENST00000437808.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000473770.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "n.1181C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000473770.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000474017.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "n.1448C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000474017.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000437808.5",
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"hgvs_c": "n.*835C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396500.1",
"strand": false,
"transcript": "ENST00000437808.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 8999,
"gene_symbol": "PISD",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.123,
"pos": 31619756,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.022,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001326411.2"
}
]
}