← 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: 1-155370889-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155370889&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155370889,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001366177.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "NM_018489.3",
"protein_id": "NP_060959.2",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392403.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018489.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "ENST00000392403.8",
"protein_id": "ENSP00000376204.3",
"transcript_support_level": 5,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018489.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392403.8"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6442G>T",
"hgvs_p": "p.Glu2148*",
"transcript": "ENST00000368346.7",
"protein_id": "ENSP00000357330.3",
"transcript_support_level": 1,
"aa_start": 2148,
"aa_end": null,
"aa_length": 2969,
"cds_start": 6442,
"cds_end": null,
"cds_length": 8910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368346.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6442G>T",
"hgvs_p": "p.Glu2148*",
"transcript": "NM_001366177.2",
"protein_id": "NP_001353106.1",
"transcript_support_level": null,
"aa_start": 2148,
"aa_end": null,
"aa_length": 2969,
"cds_start": 6442,
"cds_end": null,
"cds_length": 8910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366177.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "ENST00000679133.1",
"protein_id": "ENSP00000504026.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2969,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679133.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "ENST00000677213.1",
"protein_id": "ENSP00000503315.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677213.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "ENST00000678117.1",
"protein_id": "ENSP00000504629.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678117.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "ENST00000679097.1",
"protein_id": "ENSP00000503265.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679097.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "ENST00000677825.1",
"protein_id": "ENSP00000503792.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2963,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677825.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6247G>T",
"hgvs_p": "p.Glu2083*",
"transcript": "ENST00000679333.1",
"protein_id": "ENSP00000504598.1",
"transcript_support_level": null,
"aa_start": 2083,
"aa_end": null,
"aa_length": 2904,
"cds_start": 6247,
"cds_end": null,
"cds_length": 8715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679333.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "XM_006711450.4",
"protein_id": "XP_006711513.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711450.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "XM_006711451.4",
"protein_id": "XP_006711514.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711451.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "XM_017001785.2",
"protein_id": "XP_016857274.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001785.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "XM_047425230.1",
"protein_id": "XP_047281186.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425230.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "XM_047425235.1",
"protein_id": "XP_047281191.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425235.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "XM_047425241.1",
"protein_id": "XP_047281197.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2964,
"cds_start": 6427,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425241.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6247G>T",
"hgvs_p": "p.Glu2083*",
"transcript": "XM_047425247.1",
"protein_id": "XP_047281203.1",
"transcript_support_level": null,
"aa_start": 2083,
"aa_end": null,
"aa_length": 2904,
"cds_start": 6247,
"cds_end": null,
"cds_length": 8715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425247.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6247G>T",
"hgvs_p": "p.Glu2083*",
"transcript": "XM_047425248.1",
"protein_id": "XP_047281204.1",
"transcript_support_level": null,
"aa_start": 2083,
"aa_end": null,
"aa_length": 2904,
"cds_start": 6247,
"cds_end": null,
"cds_length": 8715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425248.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.6427G>T",
"hgvs_p": "p.Glu2143*",
"transcript": "XM_017001786.3",
"protein_id": "XP_016857275.1",
"transcript_support_level": null,
"aa_start": 2143,
"aa_end": null,
"aa_length": 2663,
"cds_start": 6427,
"cds_end": null,
"cds_length": 7992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001786.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.1267G>T",
"hgvs_p": "p.Glu423*",
"transcript": "XM_011509770.4",
"protein_id": "XP_011508072.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1267,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509770.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.1267G>T",
"hgvs_p": "p.Glu423*",
"transcript": "XM_017001788.2",
"protein_id": "XP_016857277.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1267,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001788.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "n.*1444G>T",
"hgvs_p": null,
"transcript": "ENST00000676814.1",
"protein_id": "ENSP00000504300.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000676814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "n.*1350G>T",
"hgvs_p": null,
"transcript": "ENST00000677042.1",
"protein_id": "ENSP00000503440.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000677042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "n.*1292G>T",
"hgvs_p": null,
"transcript": "ENST00000678699.1",
"protein_id": "ENSP00000503202.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "n.*1444G>T",
"hgvs_p": null,
"transcript": "ENST00000676814.1",
"protein_id": "ENSP00000504300.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000676814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "n.*1350G>T",
"hgvs_p": null,
"transcript": "ENST00000677042.1",
"protein_id": "ENSP00000503440.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000677042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "n.*1292G>T",
"hgvs_p": null,
"transcript": "ENST00000678699.1",
"protein_id": "ENSP00000503202.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "n.-21G>T",
"hgvs_p": null,
"transcript": "ENST00000477427.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000477427.1"
}
],
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"dbsnp": "rs1553247374",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.882,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001366177.2",
"gene_symbol": "ASH1L",
"hgnc_id": 19088,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6442G>T",
"hgvs_p": "p.Glu2148*"
}
],
"clinvar_disease": " autosomal dominant 52,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal dominant 52",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}