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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: 12-42374958-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=42374958&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 42374958,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001364827.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "NM_201439.2",
"protein_id": "NP_958847.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 367,
"cds_start": 395,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358314.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201439.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "ENST00000358314.12",
"protein_id": "ENSP00000351066.7",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 367,
"cds_start": 395,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201439.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358314.12"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "ENST00000395568.6",
"protein_id": "ENSP00000378935.2",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 458,
"cds_start": 395,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395568.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Glu77Gly",
"transcript": "ENST00000432191.6",
"protein_id": "ENSP00000393965.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 434,
"cds_start": 230,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432191.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.416A>G",
"hgvs_p": "p.Glu139Gly",
"transcript": "ENST00000395580.7",
"protein_id": "ENSP00000378947.3",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 374,
"cds_start": 416,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395580.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "ENST00000449194.6",
"protein_id": "ENSP00000390681.2",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 348,
"cds_start": 395,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449194.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Glu84Gly",
"transcript": "ENST00000552761.5",
"protein_id": "ENSP00000449331.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 319,
"cds_start": 251,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552761.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "n.345A>G",
"hgvs_p": null,
"transcript": "ENST00000552202.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000552202.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "NM_001364827.2",
"protein_id": "NP_001351756.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 470,
"cds_start": 395,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364827.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "NM_016488.7",
"protein_id": "NP_057572.5",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 458,
"cds_start": 395,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016488.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "ENST00000610488.4",
"protein_id": "ENSP00000479913.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 458,
"cds_start": 395,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610488.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Glu84Gly",
"transcript": "NM_001364823.2",
"protein_id": "NP_001351752.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 441,
"cds_start": 251,
"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": "NM_001364823.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Glu77Gly",
"transcript": "NM_001143787.2",
"protein_id": "NP_001137259.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 434,
"cds_start": 230,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143787.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Glu77Gly",
"transcript": "ENST00000619544.4",
"protein_id": "ENSP00000477681.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 434,
"cds_start": 230,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619544.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Glu84Gly",
"transcript": "NM_001364831.2",
"protein_id": "NP_001351760.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 422,
"cds_start": 251,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364831.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Glu77Gly",
"transcript": "NM_001364829.2",
"protein_id": "NP_001351758.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 415,
"cds_start": 230,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364829.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.230A>G",
"hgvs_p": "p.Glu77Gly",
"transcript": "NM_001364825.2",
"protein_id": "NP_001351754.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 409,
"cds_start": 230,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364825.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "ENST00000965398.1",
"protein_id": "ENSP00000635457.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 402,
"cds_start": 395,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965398.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "ENST00000890827.1",
"protein_id": "ENSP00000560886.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 392,
"cds_start": 395,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890827.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "ENST00000890831.1",
"protein_id": "ENSP00000560890.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 392,
"cds_start": 395,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890831.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly",
"transcript": "ENST00000890832.1",
"protein_id": "ENSP00000560891.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 387,
"cds_start": 395,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890832.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Glu150Gly",
"transcript": "ENST00000549190.5",
"protein_id": "ENSP00000447168.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 385,
"cds_start": 449,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549190.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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},
{
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],
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},
{
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],
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"exon_count": 3,
"intron_rank": 2,
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"transcript": "ENST00000890828.1",
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"biotype": "protein_coding",
"feature": "ENST00000890828.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "PPHLN1",
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"transcript": "ENST00000933375.1",
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "PPHLN1",
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"hgvs_c": "n.308A>G",
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"biotype": "retained_intron",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "PPHLN1",
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"transcript": "ENST00000552794.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000552794.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "PPHLN1",
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"hgvs_c": "n.156-12498A>G",
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"transcript": "ENST00000551723.5",
"protein_id": "ENSP00000450346.1",
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"aa_length": null,
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"cds_end": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000551723.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "n.*167A>G",
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"transcript": "ENST00000552429.5",
"protein_id": "ENSP00000448645.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552429.5"
}
],
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"dbsnp": "rs2076131047",
"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": 0.5350684523582458,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.514,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5116,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.472,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001364827.2",
"gene_symbol": "PPHLN1",
"hgnc_id": 19369,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.395A>G",
"hgvs_p": "p.Glu132Gly"
}
],
"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
}