← 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: 3-151213415-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=151213415&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "P2RY14",
"hgnc_id": 16442,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_014879.4",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MED12L",
"hgnc_id": 16050,
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001393769.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 2954,
"alphamissense_prediction": null,
"alphamissense_score": 0.5821,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012921363115310669,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014879.4",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309170.8",
"protein_coding": true,
"protein_id": "NP_055694.3",
"strand": false,
"transcript": "NM_014879.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000309170.8",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014879.4",
"protein_coding": true,
"protein_id": "ENSP00000308361.3",
"strand": false,
"transcript": "ENST00000309170.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10794,
"cdna_start": null,
"cds_end": null,
"cds_length": 6543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393769.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000687756.1",
"protein_coding": true,
"protein_id": "NP_001380698.1",
"strand": true,
"transcript": "NM_001393769.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10794,
"cdna_start": null,
"cds_end": null,
"cds_length": 6543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687756.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393769.1",
"protein_coding": true,
"protein_id": "ENSP00000508695.1",
"strand": true,
"transcript": "ENST00000687756.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2145,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10744,
"cdna_start": null,
"cds_end": null,
"cds_length": 6438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474524.5",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2145+19749G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417235.1",
"strand": true,
"transcript": "ENST00000474524.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2459,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001081455.2",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001074924.1",
"strand": false,
"transcript": "NM_001081455.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424796.6",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408733.2",
"strand": false,
"transcript": "ENST00000424796.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908303.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578362.1",
"strand": false,
"transcript": "ENST00000908303.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000908304.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578363.1",
"strand": false,
"transcript": "ENST00000908304.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000908305.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578364.1",
"strand": false,
"transcript": "ENST00000908305.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908306.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578365.1",
"strand": false,
"transcript": "ENST00000908306.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000908307.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578366.1",
"strand": false,
"transcript": "ENST00000908307.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000908308.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578367.1",
"strand": false,
"transcript": "ENST00000908308.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000908309.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578368.1",
"strand": false,
"transcript": "ENST00000908309.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908310.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578369.1",
"strand": false,
"transcript": "ENST00000908310.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945445.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615504.1",
"strand": false,
"transcript": "ENST00000945445.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945446.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615505.1",
"strand": false,
"transcript": "ENST00000945446.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945447.1",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615506.1",
"strand": false,
"transcript": "ENST00000945447.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005247922.4",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247979.1",
"strand": false,
"transcript": "XM_005247922.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005247923.4",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247980.1",
"strand": false,
"transcript": "XM_005247923.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011513340.4",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511642.1",
"strand": false,
"transcript": "XM_011513340.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1017,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017007583.3",
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863072.1",
"strand": false,
"transcript": "XM_017007583.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2145,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10689,
"cdna_start": null,
"cds_end": null,
"cds_length": 6438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_053002.6",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2145+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443728.3",
"strand": true,
"transcript": "NM_053002.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2144,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7661,
"cdna_start": null,
"cds_end": null,
"cds_length": 6435,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934759.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2145+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604818.1",
"strand": true,
"transcript": "ENST00000934759.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10422,
"cdna_start": null,
"cds_end": null,
"cds_length": 6171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934758.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1968+22484G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604817.1",
"strand": true,
"transcript": "ENST00000934758.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1809,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6401,
"cdna_start": null,
"cds_end": null,
"cds_length": 5430,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000273432.8",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1725+19749G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000273432.4",
"strand": true,
"transcript": "ENST00000273432.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4996,
"cdna_start": null,
"cds_end": null,
"cds_length": 4673,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000686666.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1863+22484G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509482.1",
"strand": true,
"transcript": "ENST00000686666.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 759,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": null,
"cds_end": null,
"cds_length": 2280,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688234.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509197.1",
"strand": true,
"transcript": "ENST00000688234.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 73,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 749,
"cdna_start": null,
"cds_end": null,
"cds_length": 222,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000480026.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.192+19749G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417420.1",
"strand": true,
"transcript": "ENST00000480026.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2197,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10845,
"cdna_start": null,
"cds_end": null,
"cds_length": 6594,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005676.2",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861165.1",
"strand": true,
"transcript": "XM_017005676.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2197,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10715,
"cdna_start": null,
"cds_end": null,
"cds_length": 6594,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447403.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303359.1",
"strand": true,
"transcript": "XM_047447403.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2196,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10842,
"cdna_start": null,
"cds_end": null,
"cds_length": 6591,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005677.2",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861166.1",
"strand": true,
"transcript": "XM_017005677.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2196,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10712,
"cdna_start": null,
"cds_end": null,
"cds_length": 6591,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447404.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303360.1",
"strand": true,
"transcript": "XM_047447404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2179,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10791,
"cdna_start": null,
"cds_end": null,
"cds_length": 6540,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447405.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303361.1",
"strand": true,
"transcript": "XM_047447405.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10704,
"cdna_start": null,
"cds_end": null,
"cds_length": 6453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005678.2",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861167.1",
"strand": true,
"transcript": "XM_017005678.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10701,
"cdna_start": null,
"cds_end": null,
"cds_length": 6450,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447406.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303362.1",
"strand": true,
"transcript": "XM_047447406.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2145,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10559,
"cdna_start": null,
"cds_end": null,
"cds_length": 6438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447407.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2145+19749G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303363.1",
"strand": true,
"transcript": "XM_047447407.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2144,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10686,
"cdna_start": null,
"cds_end": null,
"cds_length": 6435,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447408.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2145+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303364.1",
"strand": true,
"transcript": "XM_047447408.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10599,
"cdna_start": null,
"cds_end": null,
"cds_length": 6348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447409.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2145+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303365.1",
"strand": true,
"transcript": "XM_047447409.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10596,
"cdna_start": null,
"cds_end": null,
"cds_length": 6345,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447410.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2145+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303366.1",
"strand": true,
"transcript": "XM_047447410.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2107,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10575,
"cdna_start": null,
"cds_end": null,
"cds_length": 6324,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005679.2",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1980+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861168.1",
"strand": true,
"transcript": "XM_017005679.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2107,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10445,
"cdna_start": null,
"cds_end": null,
"cds_length": 6324,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447411.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1980+19749G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303367.1",
"strand": true,
"transcript": "XM_047447411.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10563,
"cdna_start": null,
"cds_end": null,
"cds_length": 6312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005680.2",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1968+22484G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861169.1",
"strand": true,
"transcript": "XM_017005680.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2102,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10560,
"cdna_start": null,
"cds_end": null,
"cds_length": 6309,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447412.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1968+22484G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303368.1",
"strand": true,
"transcript": "XM_047447412.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2086,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10512,
"cdna_start": null,
"cds_end": null,
"cds_length": 6261,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447413.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1968+22484G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303369.1",
"strand": true,
"transcript": "XM_047447413.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2085,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10509,
"cdna_start": null,
"cds_end": null,
"cds_length": 6258,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447414.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1968+22484G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303370.1",
"strand": true,
"transcript": "XM_047447414.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2056,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10422,
"cdna_start": null,
"cds_end": null,
"cds_length": 6171,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447416.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1968+22484G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303372.1",
"strand": true,
"transcript": "XM_047447416.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2024,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10326,
"cdna_start": null,
"cds_end": null,
"cds_length": 6075,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447417.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.1875+19749G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303373.1",
"strand": true,
"transcript": "XM_047447417.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1946,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7125,
"cdna_start": null,
"cds_end": null,
"cds_length": 5841,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512394.3",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510696.1",
"strand": true,
"transcript": "XM_011512394.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1608,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5314,
"cdna_start": null,
"cds_end": null,
"cds_length": 4827,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047447418.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303374.1",
"strand": true,
"transcript": "XM_047447418.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1223,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4189,
"cdna_start": null,
"cds_end": null,
"cds_length": 3672,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011512399.4",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "c.2250+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510701.1",
"strand": true,
"transcript": "XM_011512399.4",
"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": 4127,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685357.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "n.2508+19749G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000685357.1",
"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": 3256,
"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": "ENST00000693531.1",
"gene_hgnc_id": 16050,
"gene_symbol": "MED12L",
"hgvs_c": "n.2325+19749G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000693531.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs74811185",
"effect": "missense_variant",
"frequency_reference_population": 0.0018302558,
"gene_hgnc_id": 16442,
"gene_symbol": "P2RY14",
"gnomad_exomes_ac": 2671,
"gnomad_exomes_af": 0.00182728,
"gnomad_exomes_homalt": 38,
"gnomad_genomes_ac": 283,
"gnomad_genomes_af": 0.00185881,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 40,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.498,
"pos": 151213415,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.19,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014879.4"
}
]
}