← 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: 17-40019895-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40019895&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MED24",
"hgnc_id": 22963,
"hgvs_c": "c.2800C>T",
"hgvs_p": "p.Arg934Cys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001330211.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 130,
"alphamissense_prediction": null,
"alphamissense_score": 0.2606,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2520166337490082,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_014815.4",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2743C>T",
"hgvs_p": "p.Arg915Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394128.7",
"protein_coding": true,
"protein_id": "NP_055630.2",
"strand": false,
"transcript": "NM_014815.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000394128.7",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2743C>T",
"hgvs_p": "p.Arg915Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014815.4",
"protein_coding": true,
"protein_id": "ENSP00000377686.2",
"strand": false,
"transcript": "ENST00000394128.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "R",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 3237,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000394126.5",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2818C>T",
"hgvs_p": "p.Arg940Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377684.1",
"strand": false,
"transcript": "ENST00000394126.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 292,
"aa_ref": "R",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 905,
"cdna_start": 652,
"cds_end": null,
"cds_length": 879,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000422942.6",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393464.2",
"strand": false,
"transcript": "ENST00000422942.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "R",
"aa_start": 946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 2930,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2836,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000887917.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2836C>T",
"hgvs_p": "p.Arg946Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557976.1",
"strand": false,
"transcript": "ENST00000887917.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1019,
"aa_ref": "R",
"aa_start": 945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 2917,
"cds_end": null,
"cds_length": 3060,
"cds_start": 2833,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000972430.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2833C>T",
"hgvs_p": "p.Arg945Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642489.1",
"strand": false,
"transcript": "ENST00000972430.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "R",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 2909,
"cds_end": null,
"cds_length": 3051,
"cds_start": 2824,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000887919.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2824C>T",
"hgvs_p": "p.Arg942Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557978.1",
"strand": false,
"transcript": "ENST00000887919.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "R",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 2885,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2800,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001330211.2",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2800C>T",
"hgvs_p": "p.Arg934Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317140.1",
"strand": false,
"transcript": "NM_001330211.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "R",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 2810,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2800,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000501516.7",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2800C>T",
"hgvs_p": "p.Arg934Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440100.2",
"strand": false,
"transcript": "ENST00000501516.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "R",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 2882,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2797,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000887920.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557979.1",
"strand": false,
"transcript": "ENST00000887920.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "R",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 2865,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2797,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000931327.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601386.1",
"strand": false,
"transcript": "ENST00000931327.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "R",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 2877,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2797,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000972426.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2797C>T",
"hgvs_p": "p.Arg933Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642485.1",
"strand": false,
"transcript": "ENST00000972426.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "R",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 2873,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2779,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000887916.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2779C>T",
"hgvs_p": "p.Arg927Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557975.1",
"strand": false,
"transcript": "ENST00000887916.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "R",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4205,
"cdna_start": 3551,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2779,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000931326.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2779C>T",
"hgvs_p": "p.Arg927Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601385.1",
"strand": false,
"transcript": "ENST00000931326.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "R",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2779,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000931328.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2779C>T",
"hgvs_p": "p.Arg927Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601387.1",
"strand": false,
"transcript": "ENST00000931328.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "R",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3521,
"cdna_start": 2867,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2779,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000972427.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2779C>T",
"hgvs_p": "p.Arg927Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642486.1",
"strand": false,
"transcript": "ENST00000972427.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "R",
"aa_start": 926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2776,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000887918.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2776C>T",
"hgvs_p": "p.Arg926Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557977.1",
"strand": false,
"transcript": "ENST00000887918.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 996,
"aa_ref": "R",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 2849,
"cds_end": null,
"cds_length": 2991,
"cds_start": 2764,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000972429.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2764C>T",
"hgvs_p": "p.Arg922Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642488.1",
"strand": false,
"transcript": "ENST00000972429.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 995,
"aa_ref": "R",
"aa_start": 921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 2846,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2761,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000972431.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2761C>T",
"hgvs_p": "p.Arg921Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642490.1",
"strand": false,
"transcript": "ENST00000972431.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3491,
"cdna_start": 2835,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000931324.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2743C>T",
"hgvs_p": "p.Arg915Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601383.1",
"strand": false,
"transcript": "ENST00000931324.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 3367,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000931329.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2743C>T",
"hgvs_p": "p.Arg915Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601388.1",
"strand": false,
"transcript": "ENST00000931329.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4505,
"cdna_start": 3853,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000972424.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2743C>T",
"hgvs_p": "p.Arg915Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642483.1",
"strand": false,
"transcript": "ENST00000972424.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 989,
"aa_ref": "R",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 2856,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000972432.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2743C>T",
"hgvs_p": "p.Arg915Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642491.1",
"strand": false,
"transcript": "ENST00000972432.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": 2841,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000887915.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2740C>T",
"hgvs_p": "p.Arg914Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557974.1",
"strand": false,
"transcript": "ENST00000887915.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000887922.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2740C>T",
"hgvs_p": "p.Arg914Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557981.1",
"strand": false,
"transcript": "ENST00000887922.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": 3512,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000931325.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2740C>T",
"hgvs_p": "p.Arg914Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601384.1",
"strand": false,
"transcript": "ENST00000931325.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 3812,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000972425.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2740C>T",
"hgvs_p": "p.Arg914Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642484.1",
"strand": false,
"transcript": "ENST00000972425.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 988,
"aa_ref": "R",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000972433.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2740C>T",
"hgvs_p": "p.Arg914Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642492.1",
"strand": false,
"transcript": "ENST00000972433.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3431,
"cdna_start": 2775,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2713,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000931323.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2713C>T",
"hgvs_p": "p.Arg905Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601382.1",
"strand": false,
"transcript": "ENST00000931323.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 976,
"aa_ref": "R",
"aa_start": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2704,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001079518.2",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2704C>T",
"hgvs_p": "p.Arg902Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001072986.1",
"strand": false,
"transcript": "NM_001079518.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 976,
"aa_ref": "R",
"aa_start": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": 2789,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2704,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001267797.2",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2704C>T",
"hgvs_p": "p.Arg902Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254726.1",
"strand": false,
"transcript": "NM_001267797.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 976,
"aa_ref": "R",
"aa_start": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3446,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2704,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000356271.7",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2704C>T",
"hgvs_p": "p.Arg902Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348610.3",
"strand": false,
"transcript": "ENST00000356271.7",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 976,
"aa_ref": "R",
"aa_start": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2704,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000394127.6",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2704C>T",
"hgvs_p": "p.Arg902Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377685.2",
"strand": false,
"transcript": "ENST00000394127.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 2786,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000887921.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2701C>T",
"hgvs_p": "p.Arg901Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557980.1",
"strand": false,
"transcript": "ENST00000887921.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 797,
"aa_ref": "R",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 2252,
"cds_end": null,
"cds_length": 2394,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000972428.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "c.2167C>T",
"hgvs_p": "p.Arg723Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642487.1",
"strand": false,
"transcript": "ENST00000972428.1",
"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": 655,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000470126.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "n.531C>T",
"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": "ENST00000470126.1",
"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": 957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000491466.5",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "n.*93C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435760.1",
"strand": false,
"transcript": "ENST00000491466.5",
"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": 3334,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000535508.6",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "n.*2366C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000439148.2",
"strand": false,
"transcript": "ENST00000535508.6",
"transcript_support_level": 2
},
{
"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": 823,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000579364.1",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "n.377C>T",
"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": "ENST00000579364.1",
"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": 3406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NR_052017.2",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "n.2754C>T",
"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_052017.2",
"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": 957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000491466.5",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "n.*93C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435760.1",
"strand": false,
"transcript": "ENST00000491466.5",
"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": 3334,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000535508.6",
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"hgvs_c": "n.*2366C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000439148.2",
"strand": false,
"transcript": "ENST00000535508.6",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs748099423",
"effect": "missense_variant",
"frequency_reference_population": 0.000082513485,
"gene_hgnc_id": 22963,
"gene_symbol": "MED24",
"gnomad_exomes_ac": 122,
"gnomad_exomes_af": 0.0000857206,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000525376,
"gnomad_genomes_homalt": 0,
"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": 4.673,
"pos": 40019895,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.164,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001330211.2"
}
]
}