← 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: 2-55636255-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=55636255&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 55636255,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_033109.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2334A>G",
"hgvs_p": "p.Ser778Ser",
"transcript": "NM_033109.5",
"protein_id": "NP_149100.2",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 783,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447944.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033109.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2334A>G",
"hgvs_p": "p.Ser778Ser",
"transcript": "ENST00000447944.7",
"protein_id": "ENSP00000400646.2",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 783,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033109.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447944.7"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2352A>G",
"hgvs_p": "p.Ser784Ser",
"transcript": "ENST00000917025.1",
"protein_id": "ENSP00000587084.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 789,
"cds_start": 2352,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917025.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2331A>G",
"hgvs_p": "p.Ser777Ser",
"transcript": "ENST00000867135.1",
"protein_id": "ENSP00000537194.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 782,
"cds_start": 2331,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867135.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2331A>G",
"hgvs_p": "p.Ser777Ser",
"transcript": "ENST00000917023.1",
"protein_id": "ENSP00000587082.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 782,
"cds_start": 2331,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917023.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2328A>G",
"hgvs_p": "p.Ser776Ser",
"transcript": "ENST00000949803.1",
"protein_id": "ENSP00000619862.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 781,
"cds_start": 2328,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949803.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2325A>G",
"hgvs_p": "p.Ser775Ser",
"transcript": "ENST00000949801.1",
"protein_id": "ENSP00000619860.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 780,
"cds_start": 2325,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949801.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2286A>G",
"hgvs_p": "p.Ser762Ser",
"transcript": "ENST00000867137.1",
"protein_id": "ENSP00000537196.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 767,
"cds_start": 2286,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867137.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2286A>G",
"hgvs_p": "p.Ser762Ser",
"transcript": "ENST00000917022.1",
"protein_id": "ENSP00000587081.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 767,
"cds_start": 2286,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917022.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2280A>G",
"hgvs_p": "p.Ser760Ser",
"transcript": "ENST00000867134.1",
"protein_id": "ENSP00000537193.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 765,
"cds_start": 2280,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867134.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2265A>G",
"hgvs_p": "p.Ser755Ser",
"transcript": "ENST00000949804.1",
"protein_id": "ENSP00000619863.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 760,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949804.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2262A>G",
"hgvs_p": "p.Ser754Ser",
"transcript": "ENST00000917024.1",
"protein_id": "ENSP00000587083.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 759,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917024.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2259A>G",
"hgvs_p": "p.Ser753Ser",
"transcript": "ENST00000867136.1",
"protein_id": "ENSP00000537195.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 758,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867136.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2250A>G",
"hgvs_p": "p.Ser750Ser",
"transcript": "ENST00000867132.1",
"protein_id": "ENSP00000537192.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 755,
"cds_start": 2250,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867132.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2226A>G",
"hgvs_p": "p.Ser742Ser",
"transcript": "ENST00000949802.1",
"protein_id": "ENSP00000619861.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 747,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949802.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2220A>G",
"hgvs_p": "p.Ser740Ser",
"transcript": "ENST00000949800.1",
"protein_id": "ENSP00000619859.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 745,
"cds_start": 2220,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949800.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2160A>G",
"hgvs_p": "p.Ser720Ser",
"transcript": "ENST00000917027.1",
"protein_id": "ENSP00000587086.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 725,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917027.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2016A>G",
"hgvs_p": "p.Ser672Ser",
"transcript": "ENST00000917026.1",
"protein_id": "ENSP00000587085.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 677,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917026.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.408A>G",
"hgvs_p": "p.Ser136Ser",
"transcript": "ENST00000867138.1",
"protein_id": "ENSP00000537197.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 141,
"cds_start": 408,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867138.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2094A>G",
"hgvs_p": "p.Ser698Ser",
"transcript": "XM_005264629.3",
"protein_id": "XP_005264686.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 703,
"cds_start": 2094,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264629.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "c.2094A>G",
"hgvs_p": "p.Ser698Ser",
"transcript": "XM_017005172.2",
"protein_id": "XP_016860661.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 703,
"cds_start": 2094,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005172.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "n.*1876A>G",
"hgvs_p": null,
"transcript": "ENST00000260604.8",
"protein_id": "ENSP00000260604.4",
"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": "ENST00000260604.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "n.2334A>G",
"hgvs_p": null,
"transcript": "ENST00000415374.5",
"protein_id": "ENSP00000393953.1",
"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": "ENST00000415374.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "n.*1876A>G",
"hgvs_p": null,
"transcript": "ENST00000260604.8",
"protein_id": "ENSP00000260604.4",
"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": "ENST00000260604.8"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"hgvs_c": "n.*115A>G",
"hgvs_p": null,
"transcript": "ENST00000481066.1",
"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": "ENST00000481066.1"
}
],
"gene_symbol": "PNPT1",
"gene_hgnc_id": 23166,
"dbsnp": "rs768892122",
"frequency_reference_population": 0.000011171617,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109653,
"gnomad_genomes_af": 0.0000131513,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.027,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_033109.5",
"gene_symbol": "PNPT1",
"hgnc_id": 23166,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.2334A>G",
"hgvs_p": "p.Ser778Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}