← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-73799386-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73799386&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZSWIM8",
"hgnc_id": 23528,
"hgvs_c": "c.4546C>T",
"hgvs_p": "p.Pro1516Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001242488.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000272916",
"hgnc_id": null,
"hgvs_c": "n.*1432+1117G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000603027.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "NDST2-ZSWIM8-AS1",
"hgnc_id": null,
"hgvs_c": "n.6607G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NR_182657.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZSWIM8-AS1",
"hgnc_id": 45103,
"hgvs_c": "n.117+1117G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000456638.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1382,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5228906869888306,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "P",
"aa_start": 1521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": 4834,
"cds_end": null,
"cds_length": 5505,
"cds_start": 4561,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001367799.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4561C>T",
"hgvs_p": "p.Pro1521Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000604729.6",
"protein_coding": true,
"protein_id": "NP_001354728.1",
"strand": true,
"transcript": "NM_001367799.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "P",
"aa_start": 1521,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": 4834,
"cds_end": null,
"cds_length": 5505,
"cds_start": 4561,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000604729.6",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4561C>T",
"hgvs_p": "p.Pro1521Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367799.1",
"protein_coding": true,
"protein_id": "ENSP00000474944.1",
"strand": true,
"transcript": "ENST00000604729.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6004,
"cdna_start": 4763,
"cds_end": null,
"cds_length": 5514,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000605216.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4546C>T",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474748.1",
"strand": true,
"transcript": "ENST00000605216.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "P",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3713,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 3696,
"cds_start": 2563,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000603187.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.2563C>T",
"hgvs_p": "p.Pro855Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474766.1",
"strand": true,
"transcript": "ENST00000603187.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "P",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 2363,
"cds_end": null,
"cds_length": 3306,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000604754.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.2362C>T",
"hgvs_p": "p.Pro788Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474118.1",
"strand": true,
"transcript": "ENST00000604754.1",
"transcript_support_level": 1
},
{
"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": 4490,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000492395.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.*533C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432423.1",
"strand": true,
"transcript": "ENST00000492395.5",
"transcript_support_level": 1
},
{
"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": 4490,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000492395.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.*533C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432423.1",
"strand": true,
"transcript": "ENST00000492395.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456638.2",
"gene_hgnc_id": 45103,
"gene_symbol": "ZSWIM8-AS1",
"hgvs_c": "n.117+1117G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000456638.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5818,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000603027.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000272916",
"hgvs_c": "n.*1432+1117G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475031.1",
"strand": false,
"transcript": "ENST00000603027.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1892,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 4819,
"cds_end": null,
"cds_length": 5679,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001242488.2",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4546C>T",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229417.1",
"strand": true,
"transcript": "NM_001242488.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1842,
"aa_ref": "P",
"aa_start": 1521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6076,
"cdna_start": 4834,
"cds_end": null,
"cds_length": 5529,
"cds_start": 4561,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_015037.4",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4561C>T",
"hgvs_p": "p.Pro1521Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055852.2",
"strand": true,
"transcript": "NM_015037.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1842,
"aa_ref": "P",
"aa_start": 1521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6062,
"cdna_start": 4816,
"cds_end": null,
"cds_length": 5529,
"cds_start": 4561,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000398706.6",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4561C>T",
"hgvs_p": "p.Pro1521Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381693.2",
"strand": true,
"transcript": "ENST00000398706.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6061,
"cdna_start": 4819,
"cds_end": null,
"cds_length": 5514,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001242487.2",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4546C>T",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229416.1",
"strand": true,
"transcript": "NM_001242487.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "P",
"aa_start": 1483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 4702,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4447,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000603114.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4447C>T",
"hgvs_p": "p.Pro1483Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474043.1",
"strand": true,
"transcript": "ENST00000603114.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "P",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2368,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000412198.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.2368C>T",
"hgvs_p": "p.Pro790Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415612.1",
"strand": true,
"transcript": "ENST00000412198.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1905,
"aa_ref": "P",
"aa_start": 1521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6008,
"cdna_start": 4834,
"cds_end": null,
"cds_length": 5718,
"cds_start": 4561,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_005269648.3",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4561C>T",
"hgvs_p": "p.Pro1521Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005269705.1",
"strand": true,
"transcript": "XM_005269648.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1900,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5993,
"cdna_start": 4819,
"cds_end": null,
"cds_length": 5703,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_017015978.2",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4546C>T",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871467.1",
"strand": true,
"transcript": "XM_017015978.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1898,
"aa_ref": "P",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5987,
"cdna_start": 4813,
"cds_end": null,
"cds_length": 5697,
"cds_start": 4540,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047424860.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Pro1514Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280816.1",
"strand": true,
"transcript": "XM_047424860.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1890,
"aa_ref": "P",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5963,
"cdna_start": 4813,
"cds_end": null,
"cds_length": 5673,
"cds_start": 4540,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047424861.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Pro1514Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280817.1",
"strand": true,
"transcript": "XM_047424861.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1871,
"aa_ref": "P",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5906,
"cdna_start": 4732,
"cds_end": null,
"cds_length": 5616,
"cds_start": 4459,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047424862.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Pro1487Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280818.1",
"strand": true,
"transcript": "XM_047424862.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1866,
"aa_ref": "P",
"aa_start": 1482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 4717,
"cds_end": null,
"cds_length": 5601,
"cds_start": 4444,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047424863.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4444C>T",
"hgvs_p": "p.Pro1482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280819.1",
"strand": true,
"transcript": "XM_047424863.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1864,
"aa_ref": "P",
"aa_start": 1480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5885,
"cdna_start": 4711,
"cds_end": null,
"cds_length": 5595,
"cds_start": 4438,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047424864.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4438C>T",
"hgvs_p": "p.Pro1480Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280820.1",
"strand": true,
"transcript": "XM_047424864.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1863,
"aa_ref": "P",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5882,
"cdna_start": 4732,
"cds_end": null,
"cds_length": 5592,
"cds_start": 4459,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047424865.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Pro1487Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280821.1",
"strand": true,
"transcript": "XM_047424865.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1858,
"aa_ref": "P",
"aa_start": 1482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5867,
"cdna_start": 4717,
"cds_end": null,
"cds_length": 5577,
"cds_start": 4444,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047424866.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4444C>T",
"hgvs_p": "p.Pro1482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280822.1",
"strand": true,
"transcript": "XM_047424866.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1835,
"aa_ref": "P",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6055,
"cdna_start": 4813,
"cds_end": null,
"cds_length": 5508,
"cds_start": 4540,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047424867.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Pro1514Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280823.1",
"strand": true,
"transcript": "XM_047424867.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1829,
"aa_ref": "P",
"aa_start": 1516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6037,
"cdna_start": 4819,
"cds_end": null,
"cds_length": 5490,
"cds_start": 4546,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_006717725.4",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4546C>T",
"hgvs_p": "p.Pro1516Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717788.1",
"strand": true,
"transcript": "XM_006717725.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1827,
"aa_ref": "P",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6031,
"cdna_start": 4813,
"cds_end": null,
"cds_length": 5484,
"cds_start": 4540,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047424868.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4540C>T",
"hgvs_p": "p.Pro1514Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280824.1",
"strand": true,
"transcript": "XM_047424868.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1822,
"aa_ref": "P",
"aa_start": 1509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6016,
"cdna_start": 4798,
"cds_end": null,
"cds_length": 5469,
"cds_start": 4525,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047424869.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4525C>T",
"hgvs_p": "p.Pro1509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280825.1",
"strand": true,
"transcript": "XM_047424869.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "P",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5974,
"cdna_start": 4732,
"cds_end": null,
"cds_length": 5427,
"cds_start": 4459,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047424870.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Pro1487Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280826.1",
"strand": true,
"transcript": "XM_047424870.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "P",
"aa_start": 1482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 4717,
"cds_end": null,
"cds_length": 5412,
"cds_start": 4444,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047424871.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4444C>T",
"hgvs_p": "p.Pro1482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280827.1",
"strand": true,
"transcript": "XM_047424871.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1800,
"aa_ref": "P",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5950,
"cdna_start": 4732,
"cds_end": null,
"cds_length": 5403,
"cds_start": 4459,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_005269655.4",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Pro1487Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005269712.1",
"strand": true,
"transcript": "XM_005269655.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1795,
"aa_ref": "P",
"aa_start": 1482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5935,
"cdna_start": 4717,
"cds_end": null,
"cds_length": 5388,
"cds_start": 4444,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047424872.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4444C>T",
"hgvs_p": "p.Pro1482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280828.1",
"strand": true,
"transcript": "XM_047424872.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1655,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5465,
"cdna_start": null,
"cds_end": null,
"cds_length": 4968,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000604524.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "c.4213+333C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474348.1",
"strand": true,
"transcript": "ENST00000604524.5",
"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": 5773,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000433366.6",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.*533C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000387828.2",
"strand": true,
"transcript": "ENST00000433366.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 674,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000603195.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.77C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000603195.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 842,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000603409.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.107C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000603409.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000604165.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.313C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000604165.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NR_160292.1",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.4917C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_160292.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9247,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_182657.1",
"gene_hgnc_id": null,
"gene_symbol": "NDST2-ZSWIM8-AS1",
"hgvs_c": "n.6607G>A",
"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": "NR_182657.1",
"transcript_support_level": null
},
{
"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": 5773,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000433366.6",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.*533C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000387828.2",
"strand": true,
"transcript": "ENST00000433366.6",
"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": 871,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000603706.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000272916",
"hgvs_c": "n.*42-1327G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476336.1",
"strand": false,
"transcript": "ENST00000603706.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_038357.1",
"gene_hgnc_id": 45103,
"gene_symbol": "ZSWIM8-AS1",
"hgvs_c": "n.117+1117G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_038357.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_182656.1",
"gene_hgnc_id": null,
"gene_symbol": "NDST2-ZSWIM8-AS1",
"hgvs_c": "n.3320-1327G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_182656.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5927,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_182658.1",
"gene_hgnc_id": null,
"gene_symbol": "NDST2-ZSWIM8-AS1",
"hgvs_c": "n.4613+1117G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_182658.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 970,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000603840.5",
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"hgvs_c": "n.-247C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000603840.5",
"transcript_support_level": 1
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1238330907",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 23528,
"gene_symbol": "ZSWIM8",
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.35,
"pos": 73799386,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.2,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_001242488.2"
}
]
}