← 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: 3-50288217-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50288217&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50288217,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006764.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435Trp",
"transcript": "NM_006764.5",
"protein_id": "NP_006755.5",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 442,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417626.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006764.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435Trp",
"transcript": "ENST00000417626.8",
"protein_id": "ENSP00000402849.4",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 442,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006764.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417626.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442Trp",
"transcript": "ENST00000921977.1",
"protein_id": "ENSP00000592036.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 449,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921977.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Trp",
"transcript": "ENST00000879012.1",
"protein_id": "ENSP00000549071.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 446,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879012.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435Trp",
"transcript": "ENST00000436390.5",
"protein_id": "ENSP00000392316.1",
"transcript_support_level": 2,
"aa_start": 435,
"aa_end": null,
"aa_length": 442,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436390.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1300C>T",
"hgvs_p": "p.Arg434Trp",
"transcript": "ENST00000879013.1",
"protein_id": "ENSP00000549072.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 441,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879013.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Trp",
"transcript": "ENST00000879009.1",
"protein_id": "ENSP00000549068.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 433,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879009.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Trp",
"transcript": "ENST00000879011.1",
"protein_id": "ENSP00000549070.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 429,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879011.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Trp",
"transcript": "ENST00000948688.1",
"protein_id": "ENSP00000618747.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 425,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948688.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Arg403Trp",
"transcript": "ENST00000948686.1",
"protein_id": "ENSP00000618745.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 410,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948686.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Arg394Trp",
"transcript": "ENST00000879010.1",
"protein_id": "ENSP00000549069.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 401,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879010.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1117C>T",
"hgvs_p": "p.Arg373Trp",
"transcript": "ENST00000879014.1",
"protein_id": "ENSP00000549073.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 380,
"cds_start": 1117,
"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": "ENST00000879014.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Trp",
"transcript": "ENST00000948689.1",
"protein_id": "ENSP00000618748.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 372,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948689.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"transcript": "ENST00000879008.1",
"protein_id": "ENSP00000549067.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 346,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879008.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.Arg330Trp",
"transcript": "ENST00000948690.1",
"protein_id": "ENSP00000618749.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 337,
"cds_start": 988,
"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": "ENST00000948690.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Trp",
"transcript": "ENST00000948687.1",
"protein_id": "ENSP00000618746.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 270,
"cds_start": 787,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948687.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Arg64Trp",
"transcript": "ENST00000426499.5",
"protein_id": "ENSP00000408549.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 71,
"cds_start": 190,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426499.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.816C>T",
"hgvs_p": null,
"transcript": "ENST00000464258.5",
"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": "retained_intron",
"feature": "ENST00000464258.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.1536C>T",
"hgvs_p": null,
"transcript": "ENST00000474556.5",
"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": "retained_intron",
"feature": "ENST00000474556.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "NM_153215.3",
"protein_id": "NP_694947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316436.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153215.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "ENST00000316436.4",
"protein_id": "ENSP00000315081.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153215.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316436.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "ENST00000948603.1",
"protein_id": "ENSP00000618662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "NM_001304385.2",
"protein_id": "NP_001291314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304385.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "ENST00000878856.1",
"protein_id": "ENSP00000548915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "ENST00000948602.1",
"protein_id": "ENSP00000618661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948602.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "XM_006712979.5",
"protein_id": "XP_006713042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712979.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "XM_006712980.5",
"protein_id": "XP_006713043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712980.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSMEM2",
"gene_hgnc_id": 26781,
"hgvs_c": "c.*1015G>A",
"hgvs_p": null,
"transcript": "XM_011533370.4",
"protein_id": "XP_011531672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533370.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.*617C>T",
"hgvs_p": null,
"transcript": "ENST00000438296.1",
"protein_id": "ENSP00000415448.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"hgvs_c": "n.*154C>T",
"hgvs_p": null,
"transcript": "ENST00000486322.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000486322.5"
}
],
"gene_symbol": "IFRD2",
"gene_hgnc_id": 5457,
"dbsnp": "rs200330570",
"frequency_reference_population": 0.0000068164213,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684257,
"gnomad_genomes_af": 0.00000656556,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8653564453125,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.776,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9093,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.551,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006764.5",
"gene_symbol": "IFRD2",
"hgnc_id": 5457,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435Trp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153215.3",
"gene_symbol": "LSMEM2",
"hgnc_id": 26781,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1015G>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
}