← 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: 11-66473383-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66473383&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66473383,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_145065.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser",
"transcript": "NM_145065.3",
"protein_id": "NP_659502.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 469,
"cds_start": 599,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320740.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145065.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser",
"transcript": "ENST00000320740.12",
"protein_id": "ENSP00000322532.7",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 469,
"cds_start": 599,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145065.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320740.12"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Thr176Ser",
"transcript": "ENST00000349459.10",
"protein_id": "ENSP00000309848.8",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 445,
"cds_start": 527,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349459.10"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser",
"transcript": "ENST00000524466.5",
"protein_id": "ENSP00000434677.1",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 331,
"cds_start": 599,
"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": "ENST00000524466.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser",
"transcript": "ENST00000904606.1",
"protein_id": "ENSP00000574665.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 469,
"cds_start": 599,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904606.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser",
"transcript": "ENST00000904608.1",
"protein_id": "ENSP00000574667.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 469,
"cds_start": 599,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904608.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser",
"transcript": "ENST00000972028.1",
"protein_id": "ENSP00000642087.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 469,
"cds_start": 599,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972028.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Thr176Ser",
"transcript": "ENST00000939615.1",
"protein_id": "ENSP00000609674.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 461,
"cds_start": 527,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939615.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Thr176Ser",
"transcript": "NM_001098510.2",
"protein_id": "NP_001091980.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 445,
"cds_start": 527,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098510.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Thr176Ser",
"transcript": "ENST00000904607.1",
"protein_id": "ENSP00000574666.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 445,
"cds_start": 527,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904607.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Thr176Ser",
"transcript": "ENST00000904609.1",
"protein_id": "ENSP00000574668.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 445,
"cds_start": 527,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904609.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Thr176Ser",
"transcript": "ENST00000972029.1",
"protein_id": "ENSP00000642088.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 445,
"cds_start": 527,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972029.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.497C>G",
"hgvs_p": "p.Thr166Ser",
"transcript": "ENST00000972027.1",
"protein_id": "ENSP00000642086.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 435,
"cds_start": 497,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972027.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000972025.1",
"protein_id": "ENSP00000642084.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 411,
"cds_start": 425,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972025.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.425C>G",
"hgvs_p": "p.Thr142Ser",
"transcript": "ENST00000972026.1",
"protein_id": "ENSP00000642085.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 411,
"cds_start": 425,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972026.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.410C>G",
"hgvs_p": "p.Thr137Ser",
"transcript": "NM_001243135.2",
"protein_id": "NP_001230064.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 406,
"cds_start": 410,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243135.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.410C>G",
"hgvs_p": "p.Thr137Ser",
"transcript": "ENST00000618547.4",
"protein_id": "ENSP00000484220.1",
"transcript_support_level": 2,
"aa_start": 137,
"aa_end": null,
"aa_length": 406,
"cds_start": 410,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618547.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.278C>G",
"hgvs_p": "p.Thr93Ser",
"transcript": "NM_001243136.2",
"protein_id": "NP_001230065.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 362,
"cds_start": 278,
"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": "NM_001243136.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.278C>G",
"hgvs_p": "p.Thr93Ser",
"transcript": "ENST00000526296.5",
"protein_id": "ENSP00000436722.1",
"transcript_support_level": 3,
"aa_start": 93,
"aa_end": null,
"aa_length": 254,
"cds_start": 278,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526296.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser",
"transcript": "XM_011544884.3",
"protein_id": "XP_011543186.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 469,
"cds_start": 599,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544884.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Thr176Ser",
"transcript": "XM_047426703.1",
"protein_id": "XP_047282659.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 445,
"cds_start": 527,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3-DT",
"gene_hgnc_id": 55494,
"hgvs_c": "n.950G>C",
"hgvs_p": null,
"transcript": "ENST00000527092.6",
"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": "pseudogene",
"feature": "ENST00000527092.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "n.*263C>G",
"hgvs_p": null,
"transcript": "ENST00000532970.5",
"protein_id": "ENSP00000434314.1",
"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": "ENST00000532970.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "n.*263C>G",
"hgvs_p": null,
"transcript": "ENST00000532970.5",
"protein_id": "ENSP00000434314.1",
"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": "ENST00000532970.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "n.71-2408C>G",
"hgvs_p": null,
"transcript": "ENST00000531856.1",
"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": "pseudogene",
"feature": "ENST00000531856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"hgvs_c": "c.-41C>G",
"hgvs_p": null,
"transcript": "ENST00000528752.1",
"protein_id": "ENSP00000436161.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528752.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP3-DT",
"gene_hgnc_id": 55494,
"hgvs_c": "n.*107G>C",
"hgvs_p": null,
"transcript": "NR_120586.1",
"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": "NR_120586.1"
}
],
"gene_symbol": "PELI3",
"gene_hgnc_id": 30010,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38887959718704224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.111,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.102,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145065.3",
"gene_symbol": "PELI3",
"hgnc_id": 30010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000527092.6",
"gene_symbol": "DPP3-DT",
"hgnc_id": 55494,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.950G>C",
"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
}