← 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: 12-89492070-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=89492070&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POC1B",
"hgnc_id": 30836,
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"inheritance_mode": "AR,AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_172240.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POC1B-DUSP6",
"hgnc_id": null,
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001425794.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1437,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_172240.3",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313546.8",
"protein_coding": true,
"protein_id": "NP_758440.1",
"strand": false,
"transcript": "NM_172240.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1437,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000313546.8",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_172240.3",
"protein_coding": true,
"protein_id": "ENSP00000323302.3",
"strand": false,
"transcript": "ENST00000313546.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 348,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": null,
"cds_end": null,
"cds_length": 1047,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393179.8",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.-74_-73delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376877.4",
"strand": false,
"transcript": "ENST00000393179.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": 426,
"cds_end": null,
"cds_length": 1377,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928754.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598813.1",
"strand": false,
"transcript": "ENST00000928754.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1368,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867695.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537754.1",
"strand": false,
"transcript": "ENST00000867695.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 451,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1356,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867692.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537751.1",
"strand": false,
"transcript": "ENST00000867692.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1329,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928753.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598812.1",
"strand": false,
"transcript": "ENST00000928753.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 436,
"aa_ref": "R",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1311,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199777.2",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.191_192delGAinsAG",
"hgvs_p": "p.Arg64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186706.1",
"strand": false,
"transcript": "NM_001199777.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 436,
"aa_ref": "R",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1311,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000549035.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.191_192delGAinsAG",
"hgvs_p": "p.Arg64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447916.1",
"strand": false,
"transcript": "ENST00000549035.1",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 431,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2873,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1296,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928752.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598811.1",
"strand": false,
"transcript": "ENST00000928752.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 405,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1218,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867693.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537752.1",
"strand": false,
"transcript": "ENST00000867693.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 403,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1212,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425771.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412700.1",
"strand": false,
"transcript": "NM_001425771.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1185,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425794.1",
"gene_hgnc_id": null,
"gene_symbol": "POC1B-DUSP6",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412723.1",
"strand": false,
"transcript": "NM_001425794.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 382,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 426,
"cds_end": null,
"cds_length": 1149,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867694.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537753.1",
"strand": false,
"transcript": "ENST00000867694.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 378,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1137,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867691.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537750.1",
"strand": false,
"transcript": "ENST00000867691.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1134,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425772.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412701.1",
"strand": false,
"transcript": "NM_001425772.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1104,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425795.1",
"gene_hgnc_id": null,
"gene_symbol": "POC1B-DUSP6",
"hgvs_c": "c.317_318delGAinsAG",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412724.1",
"strand": false,
"transcript": "NM_001425795.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 237,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": null,
"cds_end": null,
"cds_length": 714,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001425796.1",
"gene_hgnc_id": null,
"gene_symbol": "POC1B-DUSP6",
"hgvs_c": "c.-74_-73delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412725.1",
"strand": false,
"transcript": "NM_001425796.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 220,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1154,
"cdna_start": null,
"cds_end": null,
"cds_length": 663,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001425773.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.-74_-73delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412702.1",
"strand": false,
"transcript": "NM_001425773.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 418,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2794,
"cdna_start": null,
"cds_end": null,
"cds_length": 1257,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867696.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "c.272+5100_272+5101delGAinsAG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537755.1",
"strand": false,
"transcript": "ENST00000867696.1",
"transcript_support_level": null
},
{
"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": 1727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000539190.6",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.415_416delGAinsAG",
"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": "ENST00000539190.6",
"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": 473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547274.5",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.145_146delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449648.1",
"strand": false,
"transcript": "ENST00000547274.5",
"transcript_support_level": 3
},
{
"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": 1392,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547496.5",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.145_146delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447437.1",
"strand": false,
"transcript": "ENST00000547496.5",
"transcript_support_level": 2
},
{
"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": 829,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000548715.5",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.145_146delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449945.1",
"strand": false,
"transcript": "ENST00000548715.5",
"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": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000549504.2",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.131_132delGAinsAG",
"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": "ENST00000549504.2",
"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": 700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000552563.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.341_342delGAinsAG",
"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": "ENST00000552563.1",
"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": 2875,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_037659.2",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.297_298delGAinsAG",
"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_037659.2",
"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": 2911,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_037660.2",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.356_357delGAinsAG",
"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_037660.2",
"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": 3200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_189587.1",
"gene_hgnc_id": null,
"gene_symbol": "POC1B-DUSP6",
"hgvs_c": "n.469_470delGAinsAG",
"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_189587.1",
"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": 2947,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_189588.1",
"gene_hgnc_id": null,
"gene_symbol": "POC1B-DUSP6",
"hgvs_c": "n.297_298delGAinsAG",
"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_189588.1",
"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": 3119,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_189589.1",
"gene_hgnc_id": null,
"gene_symbol": "POC1B-DUSP6",
"hgvs_c": "n.469_470delGAinsAG",
"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_189589.1",
"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": 1169,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000850975.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.101-24386_101-24385delGAinsAG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000521057.1",
"strand": false,
"transcript": "ENST00000850975.1",
"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": 550,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546830.1",
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"hgvs_c": "n.*173_*174delGAinsAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449256.1",
"strand": true,
"transcript": "ENST00000546830.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30836,
"gene_symbol": "POC1B",
"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": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 89492070,
"ref": "TC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_172240.3"
}
]
}