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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: 9-5762595-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=5762595&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 5762595,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_020829.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Gln683*",
"transcript": "NM_020829.4",
"protein_id": "NP_065880.2",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 1423,
"cds_start": 2047,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000414202.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020829.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Gln683*",
"transcript": "ENST00000414202.7",
"protein_id": "ENSP00000416696.2",
"transcript_support_level": 5,
"aa_start": 683,
"aa_end": null,
"aa_length": 1423,
"cds_start": 2047,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020829.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414202.7"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1720C>T",
"hgvs_p": "p.Gln574*",
"transcript": "ENST00000545641.5",
"protein_id": "ENSP00000439488.1",
"transcript_support_level": 1,
"aa_start": 574,
"aa_end": null,
"aa_length": 1314,
"cds_start": 1720,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545641.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Gln683*",
"transcript": "ENST00000251879.10",
"protein_id": "ENSP00000251879.6",
"transcript_support_level": 1,
"aa_start": 683,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2047,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251879.10"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.2044C>T",
"hgvs_p": "p.Gln682*",
"transcript": "ENST00000894135.1",
"protein_id": "ENSP00000564194.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 1422,
"cds_start": 2044,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894135.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.2044C>T",
"hgvs_p": "p.Gln682*",
"transcript": "ENST00000928612.1",
"protein_id": "ENSP00000598671.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 1422,
"cds_start": 2044,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928612.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.2008C>T",
"hgvs_p": "p.Gln670*",
"transcript": "ENST00000928613.1",
"protein_id": "ENSP00000598672.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2008,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928613.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1936C>T",
"hgvs_p": "p.Gln646*",
"transcript": "NM_001206557.2",
"protein_id": "NP_001193486.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 1386,
"cds_start": 1936,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206557.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1936C>T",
"hgvs_p": "p.Gln646*",
"transcript": "ENST00000418622.7",
"protein_id": "ENSP00000402240.4",
"transcript_support_level": 5,
"aa_start": 646,
"aa_end": null,
"aa_length": 1386,
"cds_start": 1936,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418622.7"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "ENST00000894134.1",
"protein_id": "ENSP00000564193.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1385,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894134.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Gln683*",
"transcript": "NM_001135920.4",
"protein_id": "NP_001129392.2",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2047,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135920.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.2044C>T",
"hgvs_p": "p.Gln682*",
"transcript": "XM_005251523.4",
"protein_id": "XP_005251580.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 1422,
"cds_start": 2044,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251523.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Gln645*",
"transcript": "XM_047423609.1",
"protein_id": "XP_047279565.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1385,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423609.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Gln568*",
"transcript": "XM_017014934.2",
"protein_id": "XP_016870423.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1702,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014934.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Gln568*",
"transcript": "XM_017014935.2",
"protein_id": "XP_016870424.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1702,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014935.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Gln568*",
"transcript": "XM_017014936.2",
"protein_id": "XP_016870425.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1702,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014936.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1591C>T",
"hgvs_p": "p.Gln531*",
"transcript": "XM_047423610.1",
"protein_id": "XP_047279566.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1591,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423610.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Gln372*",
"transcript": "XM_011517967.3",
"protein_id": "XP_011516269.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 1112,
"cds_start": 1114,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517967.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Gln146*",
"transcript": "XM_011517968.3",
"protein_id": "XP_011516270.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 886,
"cds_start": 436,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517968.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Gln146*",
"transcript": "XM_047423611.1",
"protein_id": "XP_047279567.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 886,
"cds_start": 436,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "n.2746C>T",
"hgvs_p": null,
"transcript": "ENST00000276898.3",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000276898.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "n.2247C>T",
"hgvs_p": null,
"transcript": "XR_007061330.1",
"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": "XR_007061330.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
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"hgvs_c": "n.2139C>T",
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"transcript": "XR_007061331.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "XR_007061331.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
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"hgvs_c": "n.2136C>T",
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"transcript": "XR_007061332.1",
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"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061332.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"hgvs_c": "n.2250C>T",
"hgvs_p": null,
"transcript": "XR_428426.4",
"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": "XR_428426.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ERMP1",
"gene_hgnc_id": 23703,
"hgvs_c": "n.*84-11722G>A",
"hgvs_p": null,
"transcript": "ENST00000688202.1",
"protein_id": "ENSP00000510190.1",
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"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": "ENST00000688202.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ERMP1",
"gene_hgnc_id": 23703,
"hgvs_c": "n.*84-11719G>A",
"hgvs_p": null,
"transcript": "ENST00000689364.1",
"protein_id": "ENSP00000509092.1",
"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": "ENST00000689364.1"
}
],
"gene_symbol": "RIC1",
"gene_hgnc_id": 17686,
"dbsnp": "rs2131093433",
"frequency_reference_population": 6.841396e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8414e-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": 0.5180000066757202,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.518,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.542,
"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_020829.4",
"gene_symbol": "RIC1",
"hgnc_id": 17686,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Gln683*"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000688202.1",
"gene_symbol": "ERMP1",
"hgnc_id": 23703,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*84-11722G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Seizure",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Seizure",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}