← 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: 17-40021963-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40021963&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40021963,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001330211.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "NM_014815.4",
"protein_id": "NP_055630.2",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 989,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394128.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014815.4"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000394128.7",
"protein_id": "ENSP00000377686.2",
"transcript_support_level": 1,
"aa_start": 872,
"aa_end": null,
"aa_length": 989,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014815.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394128.7"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2690C>A",
"hgvs_p": "p.Ser897*",
"transcript": "ENST00000394126.5",
"protein_id": "ENSP00000377684.1",
"transcript_support_level": 1,
"aa_start": 897,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394126.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.395C>A",
"hgvs_p": "p.Ser132*",
"transcript": "ENST00000422942.6",
"protein_id": "ENSP00000393464.2",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 292,
"cds_start": 395,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422942.6"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2708C>A",
"hgvs_p": "p.Ser903*",
"transcript": "ENST00000887917.1",
"protein_id": "ENSP00000557976.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887917.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2708C>A",
"hgvs_p": "p.Ser903*",
"transcript": "ENST00000972430.1",
"protein_id": "ENSP00000642489.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972430.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2696C>A",
"hgvs_p": "p.Ser899*",
"transcript": "ENST00000887919.1",
"protein_id": "ENSP00000557978.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2696,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887919.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2672C>A",
"hgvs_p": "p.Ser891*",
"transcript": "NM_001330211.2",
"protein_id": "NP_001317140.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330211.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2672C>A",
"hgvs_p": "p.Ser891*",
"transcript": "ENST00000501516.7",
"protein_id": "ENSP00000440100.2",
"transcript_support_level": 5,
"aa_start": 891,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000501516.7"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2672C>A",
"hgvs_p": "p.Ser891*",
"transcript": "ENST00000887920.1",
"protein_id": "ENSP00000557979.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887920.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2672C>A",
"hgvs_p": "p.Ser891*",
"transcript": "ENST00000931327.1",
"protein_id": "ENSP00000601386.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931327.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2672C>A",
"hgvs_p": "p.Ser891*",
"transcript": "ENST00000972426.1",
"protein_id": "ENSP00000642485.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972426.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2651C>A",
"hgvs_p": "p.Ser884*",
"transcript": "ENST00000887916.1",
"protein_id": "ENSP00000557975.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887916.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2651C>A",
"hgvs_p": "p.Ser884*",
"transcript": "ENST00000931326.1",
"protein_id": "ENSP00000601385.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931326.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2651C>A",
"hgvs_p": "p.Ser884*",
"transcript": "ENST00000931328.1",
"protein_id": "ENSP00000601387.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931328.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000972427.1",
"protein_id": "ENSP00000642486.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2615,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972427.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2651C>A",
"hgvs_p": "p.Ser884*",
"transcript": "ENST00000887918.1",
"protein_id": "ENSP00000557977.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2651,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887918.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2636C>A",
"hgvs_p": "p.Ser879*",
"transcript": "ENST00000972429.1",
"protein_id": "ENSP00000642488.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 996,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972429.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2633C>A",
"hgvs_p": "p.Ser878*",
"transcript": "ENST00000972431.1",
"protein_id": "ENSP00000642490.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 995,
"cds_start": 2633,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972431.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000931324.1",
"protein_id": "ENSP00000601383.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 989,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931324.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000931329.1",
"protein_id": "ENSP00000601388.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 989,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931329.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000972424.1",
"protein_id": "ENSP00000642483.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 989,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972424.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000972432.1",
"protein_id": "ENSP00000642491.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 989,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972432.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000887915.1",
"protein_id": "ENSP00000557974.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 988,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887915.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000887922.1",
"protein_id": "ENSP00000557981.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 988,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887922.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000931325.1",
"protein_id": "ENSP00000601384.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 988,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931325.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000972425.1",
"protein_id": "ENSP00000642484.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 988,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972425.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Ser872*",
"transcript": "ENST00000972433.1",
"protein_id": "ENSP00000642492.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 988,
"cds_start": 2615,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972433.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2585C>A",
"hgvs_p": "p.Ser862*",
"transcript": "ENST00000931323.1",
"protein_id": "ENSP00000601382.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 979,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931323.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2576C>A",
"hgvs_p": "p.Ser859*",
"transcript": "NM_001079518.2",
"protein_id": "NP_001072986.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 976,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079518.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2576C>A",
"hgvs_p": "p.Ser859*",
"transcript": "NM_001267797.2",
"protein_id": "NP_001254726.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 976,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267797.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2576C>A",
"hgvs_p": "p.Ser859*",
"transcript": "ENST00000356271.7",
"protein_id": "ENSP00000348610.3",
"transcript_support_level": 2,
"aa_start": 859,
"aa_end": null,
"aa_length": 976,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356271.7"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2576C>A",
"hgvs_p": "p.Ser859*",
"transcript": "ENST00000394127.6",
"protein_id": "ENSP00000377685.2",
"transcript_support_level": 2,
"aa_start": 859,
"aa_end": null,
"aa_length": 976,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394127.6"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2576C>A",
"hgvs_p": "p.Ser859*",
"transcript": "ENST00000887921.1",
"protein_id": "ENSP00000557980.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 975,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887921.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2039C>A",
"hgvs_p": "p.Ser680*",
"transcript": "ENST00000972428.1",
"protein_id": "ENSP00000642487.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 797,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.140C>A",
"hgvs_p": null,
"transcript": "ENST00000491466.5",
"protein_id": "ENSP00000435760.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491466.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.*2238C>A",
"hgvs_p": null,
"transcript": "ENST00000535508.6",
"protein_id": "ENSP00000439148.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000535508.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.2626C>A",
"hgvs_p": null,
"transcript": "NR_052017.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_052017.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.*2238C>A",
"hgvs_p": null,
"transcript": "ENST00000535508.6",
"protein_id": "ENSP00000439148.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000535508.6"
}
],
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"dbsnp": "rs377258028",
"frequency_reference_population": 6.9013015e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.9013e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2290000021457672,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.769,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330211.2",
"gene_symbol": "MED24",
"hgnc_id": 22963,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.2672C>A",
"hgvs_p": "p.Ser891*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}