← 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: 2-31883450-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=31883450&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 31883450,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385196.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198His",
"transcript": "NM_001301833.4",
"protein_id": "NP_001288762.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 593,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404530.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301833.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198His",
"transcript": "ENST00000404530.6",
"protein_id": "ENSP00000385557.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 593,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001301833.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404530.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"transcript": "ENST00000379383.7",
"protein_id": "ENSP00000368691.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 300,
"cds_start": 602,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379383.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198His",
"transcript": "ENST00000295065.9",
"protein_id": "ENSP00000295065.4",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 593,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295065.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"transcript": "NM_001385196.1",
"protein_id": "NP_001372125.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 391,
"cds_start": 875,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385196.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238His",
"transcript": "NM_001371912.2",
"protein_id": "NP_001358841.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 337,
"cds_start": 713,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371912.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238His",
"transcript": "ENST00000908849.1",
"protein_id": "ENSP00000578908.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 337,
"cds_start": 713,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908849.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.713G>A",
"hgvs_p": "p.Arg238His",
"transcript": "ENST00000924200.1",
"protein_id": "ENSP00000594259.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 337,
"cds_start": 713,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924200.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.695G>A",
"hgvs_p": "p.Arg232His",
"transcript": "ENST00000924203.1",
"protein_id": "ENSP00000594262.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 331,
"cds_start": 695,
"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": "ENST00000924203.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207His",
"transcript": "NM_001371913.2",
"protein_id": "NP_001358842.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 306,
"cds_start": 620,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371913.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198His",
"transcript": "NM_001371914.2",
"protein_id": "NP_001358843.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 593,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371914.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198His",
"transcript": "NM_015955.5",
"protein_id": "NP_057039.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 593,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015955.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198His",
"transcript": "ENST00000908851.1",
"protein_id": "ENSP00000578910.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 593,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908851.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198His",
"transcript": "ENST00000924201.1",
"protein_id": "ENSP00000594260.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 297,
"cds_start": 593,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924201.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"transcript": "ENST00000924202.1",
"protein_id": "ENSP00000594261.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 276,
"cds_start": 530,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924202.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "NM_001137602.4",
"protein_id": "NP_001131074.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 274,
"cds_start": 524,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001137602.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "NM_001371916.2",
"protein_id": "NP_001358845.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 274,
"cds_start": 524,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371916.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000426310.6",
"protein_id": "ENSP00000400795.2",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 274,
"cds_start": 524,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426310.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000908850.1",
"protein_id": "ENSP00000578909.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 274,
"cds_start": 524,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908850.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "ENST00000908853.1",
"protein_id": "ENSP00000578912.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 231,
"cds_start": 395,
"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": "ENST00000908853.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123His",
"transcript": "ENST00000908848.1",
"protein_id": "ENSP00000578907.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 222,
"cds_start": 368,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908848.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123His",
"transcript": "ENST00000951230.1",
"protein_id": "ENSP00000621289.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 222,
"cds_start": 368,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951230.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102His",
"transcript": "NM_001301852.4",
"protein_id": "NP_001288781.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 201,
"cds_start": 305,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301852.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102His",
"transcript": "NM_001371917.2",
"protein_id": "NP_001358846.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 201,
"cds_start": 305,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371917.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102His",
"transcript": "NM_001371918.2",
"protein_id": "NP_001358847.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 201,
"cds_start": 305,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371918.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "NM_001371920.2",
"protein_id": "NP_001358849.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 199,
"cds_start": 299,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371920.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100His",
"transcript": "ENST00000908852.1",
"protein_id": "ENSP00000578911.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 199,
"cds_start": 299,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908852.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Arg90His",
"transcript": "NM_001371921.2",
"protein_id": "NP_001358850.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 189,
"cds_start": 269,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371921.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "XM_047444635.1",
"protein_id": "XP_047300591.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 274,
"cds_start": 524,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444635.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102His",
"transcript": "XM_011532896.3",
"protein_id": "XP_011531198.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 201,
"cds_start": 305,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532896.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102His",
"transcript": "XM_047444636.1",
"protein_id": "XP_047300592.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 201,
"cds_start": 305,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY30",
"gene_hgnc_id": 24590,
"hgvs_c": "n.666G>A",
"hgvs_p": null,
"transcript": "ENST00000446765.5",
"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": "pseudogene",
"feature": "ENST00000446765.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "n.225+8542G>A",
"hgvs_p": null,
"transcript": "ENST00000422936.5",
"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": "pseudogene",
"feature": "ENST00000422936.5"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "n.472-13498G>A",
"hgvs_p": null,
"transcript": "ENST00000490459.5",
"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": "pseudogene",
"feature": "ENST00000490459.5"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "n.1199-13498G>A",
"hgvs_p": null,
"transcript": "NR_126032.3",
"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_126032.3"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "n.444-13498G>A",
"hgvs_p": null,
"transcript": "NR_126034.4",
"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": "NR_126034.4"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "n.1372+8542G>A",
"hgvs_p": null,
"transcript": "NR_163995.2",
"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_163995.2"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "n.522-13498G>A",
"hgvs_p": null,
"transcript": "NR_163996.2",
"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_163996.2"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "n.1341+8542G>A",
"hgvs_p": null,
"transcript": "NR_163997.2",
"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_163997.2"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"hgvs_c": "n.664+8542G>A",
"hgvs_p": null,
"transcript": "NR_163998.2",
"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_163998.2"
}
],
"gene_symbol": "MEMO1",
"gene_hgnc_id": 14014,
"dbsnp": "rs764340840",
"frequency_reference_population": 0.000006298776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000557248,
"gnomad_genomes_af": 0.0000131593,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21318814158439636,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.2337,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.081,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001385196.1",
"gene_symbol": "MEMO1",
"hgnc_id": 14014,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000446765.5",
"gene_symbol": "DPY30",
"hgnc_id": 24590,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.666G>A",
"hgvs_p": null
}
],
"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
}