← 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: 12-120351400-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120351400&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120351400,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002442.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "NM_002442.4",
"protein_id": "NP_002433.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 362,
"cds_start": 734,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257552.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002442.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "ENST00000257552.7",
"protein_id": "ENSP00000257552.2",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 362,
"cds_start": 734,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002442.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257552.7"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "ENST00000923996.1",
"protein_id": "ENSP00000594055.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 380,
"cds_start": 734,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923996.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "ENST00000854931.1",
"protein_id": "ENSP00000524990.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 362,
"cds_start": 734,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854931.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "ENST00000923992.1",
"protein_id": "ENSP00000594051.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 362,
"cds_start": 734,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923992.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "ENST00000923995.1",
"protein_id": "ENSP00000594054.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 362,
"cds_start": 734,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923995.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.731A>C",
"hgvs_p": "p.Glu244Ala",
"transcript": "NM_001414485.1",
"protein_id": "NP_001401414.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 361,
"cds_start": 731,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414485.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.731A>C",
"hgvs_p": "p.Glu244Ala",
"transcript": "ENST00000923990.1",
"protein_id": "ENSP00000594049.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 361,
"cds_start": 731,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923990.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "NM_001414486.1",
"protein_id": "NP_001401415.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 351,
"cds_start": 734,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414486.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "ENST00000854930.1",
"protein_id": "ENSP00000524989.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 351,
"cds_start": 734,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854930.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "ENST00000923994.1",
"protein_id": "ENSP00000594053.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 351,
"cds_start": 734,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923994.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.581A>C",
"hgvs_p": "p.Glu194Ala",
"transcript": "NM_001414489.1",
"protein_id": "NP_001401418.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 311,
"cds_start": 581,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414489.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Glu177Ala",
"transcript": "NM_001414490.1",
"protein_id": "NP_001401419.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 294,
"cds_start": 530,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414490.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Glu177Ala",
"transcript": "NM_001414491.1",
"protein_id": "NP_001401420.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 283,
"cds_start": 530,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414491.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.425A>C",
"hgvs_p": "p.Glu142Ala",
"transcript": "NM_001414493.1",
"protein_id": "NP_001401422.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 259,
"cds_start": 425,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414493.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.425A>C",
"hgvs_p": "p.Glu142Ala",
"transcript": "NM_001414494.1",
"protein_id": "NP_001401423.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 259,
"cds_start": 425,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414494.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.425A>C",
"hgvs_p": "p.Glu142Ala",
"transcript": "NM_001414495.1",
"protein_id": "NP_001401424.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 259,
"cds_start": 425,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414495.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.425A>C",
"hgvs_p": "p.Glu142Ala",
"transcript": "NM_001414496.1",
"protein_id": "NP_001401425.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 248,
"cds_start": 425,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414496.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala",
"transcript": "XM_011538361.4",
"protein_id": "XP_011536663.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 362,
"cds_start": 734,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538361.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.434A>C",
"hgvs_p": "p.Glu145Ala",
"transcript": "XM_011538364.3",
"protein_id": "XP_011536666.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 262,
"cds_start": 434,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538364.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.425A>C",
"hgvs_p": "p.Glu142Ala",
"transcript": "XM_011538366.3",
"protein_id": "XP_011536668.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 259,
"cds_start": 425,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538366.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.320A>C",
"hgvs_p": "p.Glu107Ala",
"transcript": "XM_006719404.4",
"protein_id": "XP_006719467.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 224,
"cds_start": 320,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719404.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.320A>C",
"hgvs_p": "p.Glu107Ala",
"transcript": "XM_011538368.3",
"protein_id": "XP_011536670.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 224,
"cds_start": 320,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538368.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.320A>C",
"hgvs_p": "p.Glu107Ala",
"transcript": "XM_011538370.3",
"protein_id": "XP_011536672.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 224,
"cds_start": 320,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538370.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.320A>C",
"hgvs_p": "p.Glu107Ala",
"transcript": "XM_011538371.3",
"protein_id": "XP_011536673.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 224,
"cds_start": 320,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538371.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.733+1899A>C",
"hgvs_p": null,
"transcript": "NM_001414487.1",
"protein_id": "NP_001401416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.733+1899A>C",
"hgvs_p": null,
"transcript": "NM_001414488.1",
"protein_id": "NP_001401417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414488.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.733+1899A>C",
"hgvs_p": null,
"transcript": "ENST00000923991.1",
"protein_id": "ENSP00000594050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923991.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.730+1899A>C",
"hgvs_p": null,
"transcript": "ENST00000923993.1",
"protein_id": "ENSP00000594052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": null,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923993.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.529+1899A>C",
"hgvs_p": null,
"transcript": "NM_001414492.1",
"protein_id": "NP_001401421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.424+1899A>C",
"hgvs_p": null,
"transcript": "NM_001414497.1",
"protein_id": "NP_001401426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.424+1899A>C",
"hgvs_p": null,
"transcript": "NM_001414498.1",
"protein_id": "NP_001401427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.526+1899A>C",
"hgvs_p": null,
"transcript": "ENST00000546985.1",
"protein_id": "ENSP00000446710.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.424+1899A>C",
"hgvs_p": null,
"transcript": "XM_047428872.1",
"protein_id": "XP_047284828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": null,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428872.1"
}
],
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"dbsnp": "rs144415982",
"frequency_reference_population": 0.0000030989802,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000136847,
"gnomad_genomes_af": 0.0000197431,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4680660367012024,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.44600000977516174,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.2554,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.06,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.291561904098383,
"dbscsnv_ada_prediction": "Benign",
"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_002442.4",
"gene_symbol": "MSI1",
"hgnc_id": 7330,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.734A>C",
"hgvs_p": "p.Glu245Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}