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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-66473248-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66473248&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66473248,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145065.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "NM_145065.3",
"protein_id": "NP_659502.2",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 469,
"cds_start": 464,
"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": "R",
"aa_alt": "H",
"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.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "ENST00000320740.12",
"protein_id": "ENSP00000322532.7",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 469,
"cds_start": 464,
"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": "R",
"aa_alt": "H",
"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.392G>A",
"hgvs_p": "p.Arg131His",
"transcript": "ENST00000349459.10",
"protein_id": "ENSP00000309848.8",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 445,
"cds_start": 392,
"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": "R",
"aa_alt": "H",
"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.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "ENST00000524466.5",
"protein_id": "ENSP00000434677.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 331,
"cds_start": 464,
"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": "R",
"aa_alt": "H",
"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.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "ENST00000904606.1",
"protein_id": "ENSP00000574665.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 469,
"cds_start": 464,
"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": "R",
"aa_alt": "H",
"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.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "ENST00000904608.1",
"protein_id": "ENSP00000574667.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 469,
"cds_start": 464,
"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": "R",
"aa_alt": "H",
"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.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "ENST00000972028.1",
"protein_id": "ENSP00000642087.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 469,
"cds_start": 464,
"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": "R",
"aa_alt": "H",
"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.392G>A",
"hgvs_p": "p.Arg131His",
"transcript": "ENST00000939615.1",
"protein_id": "ENSP00000609674.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 461,
"cds_start": 392,
"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": "R",
"aa_alt": "H",
"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.392G>A",
"hgvs_p": "p.Arg131His",
"transcript": "NM_001098510.2",
"protein_id": "NP_001091980.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 445,
"cds_start": 392,
"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": "R",
"aa_alt": "H",
"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.392G>A",
"hgvs_p": "p.Arg131His",
"transcript": "ENST00000904607.1",
"protein_id": "ENSP00000574666.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 445,
"cds_start": 392,
"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": "R",
"aa_alt": "H",
"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.392G>A",
"hgvs_p": "p.Arg131His",
"transcript": "ENST00000904609.1",
"protein_id": "ENSP00000574668.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 445,
"cds_start": 392,
"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": "R",
"aa_alt": "H",
"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.392G>A",
"hgvs_p": "p.Arg131His",
"transcript": "ENST00000972029.1",
"protein_id": "ENSP00000642088.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 445,
"cds_start": 392,
"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": "R",
"aa_alt": "H",
"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.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000972027.1",
"protein_id": "ENSP00000642086.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 435,
"cds_start": 362,
"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": "R",
"aa_alt": "H",
"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.290G>A",
"hgvs_p": "p.Arg97His",
"transcript": "ENST00000972025.1",
"protein_id": "ENSP00000642084.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 411,
"cds_start": 290,
"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": "R",
"aa_alt": "H",
"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.290G>A",
"hgvs_p": "p.Arg97His",
"transcript": "ENST00000972026.1",
"protein_id": "ENSP00000642085.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 411,
"cds_start": 290,
"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": "R",
"aa_alt": "H",
"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.275G>A",
"hgvs_p": "p.Arg92His",
"transcript": "NM_001243135.2",
"protein_id": "NP_001230064.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 406,
"cds_start": 275,
"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": "R",
"aa_alt": "H",
"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.275G>A",
"hgvs_p": "p.Arg92His",
"transcript": "ENST00000618547.4",
"protein_id": "ENSP00000484220.1",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 406,
"cds_start": 275,
"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": "R",
"aa_alt": "H",
"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.143G>A",
"hgvs_p": "p.Arg48His",
"transcript": "NM_001243136.2",
"protein_id": "NP_001230065.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 362,
"cds_start": 143,
"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": "R",
"aa_alt": "H",
"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.143G>A",
"hgvs_p": "p.Arg48His",
"transcript": "ENST00000526296.5",
"protein_id": "ENSP00000436722.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 254,
"cds_start": 143,
"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": "R",
"aa_alt": "H",
"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.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "XM_011544884.3",
"protein_id": "XP_011543186.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 469,
"cds_start": 464,
"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": "R",
"aa_alt": "H",
"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.392G>A",
"hgvs_p": "p.Arg131His",
"transcript": "XM_047426703.1",
"protein_id": "XP_047282659.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 445,
"cds_start": 392,
"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.1085C>T",
"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.*128G>A",
"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.*128G>A",
"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.71-2543G>A",
"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.-176G>A",
"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.*242C>T",
"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": "rs1161706622",
"frequency_reference_population": 0.0000024867488,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000137315,
"gnomad_genomes_af": 0.0000131562,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9754133224487305,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.771,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9979,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_145065.3",
"gene_symbol": "PELI3",
"hgnc_id": 30010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155His"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000527092.6",
"gene_symbol": "DPP3-DT",
"hgnc_id": 55494,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1085C>T",
"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
}