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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: 20-1980820-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1980820&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1980820,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000217305.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "NM_024411.5",
"protein_id": "NP_077722.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": "ENST00000217305.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000217305.3",
"protein_id": "ENSP00000217305.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": "NM_024411.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "NM_001190892.1",
"protein_id": "NP_001177821.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "NM_001190898.3",
"protein_id": "NP_001177827.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "NM_001190899.2",
"protein_id": "NP_001177828.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "NM_001190900.1",
"protein_id": "NP_001177829.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000539905.5",
"protein_id": "ENSP00000440185.1",
"transcript_support_level": 4,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000540134.5",
"protein_id": "ENSP00000442259.1",
"transcript_support_level": 4,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000651328.1",
"protein_id": "ENSP00000499191.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 148,
"cds_start": 268,
"cds_end": null,
"cds_length": 448,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000650824.1",
"protein_id": "ENSP00000499095.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 137,
"cds_start": 268,
"cds_end": null,
"cds_length": 414,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000651882.1",
"protein_id": "ENSP00000498752.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 117,
"cds_start": 268,
"cds_end": null,
"cds_length": 356,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000650937.1",
"protein_id": "ENSP00000498947.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 114,
"cds_start": 268,
"cds_end": null,
"cds_length": 347,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "ENST00000651684.1",
"protein_id": "ENSP00000498453.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 90,
"cds_start": 268,
"cds_end": null,
"cds_length": 273,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "XM_011529244.2",
"protein_id": "XP_011527546.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "XM_011529245.1",
"protein_id": "XP_011527547.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "XM_011529246.3",
"protein_id": "XP_011527548.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "XM_011529247.1",
"protein_id": "XP_011527549.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "XM_011529248.2",
"protein_id": "XP_011527550.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "XM_011529249.3",
"protein_id": "XP_011527551.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "XM_011529250.3",
"protein_id": "XP_011527552.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg",
"transcript": "XM_017027878.1",
"protein_id": "XP_016883367.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 254,
"cds_start": 268,
"cds_end": null,
"cds_length": 765,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "?",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.???90???",
"transcript": "ENST00000650874.1",
"protein_id": "ENSP00000498438.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 88,
"cds_start": 268,
"cds_end": null,
"cds_length": 268,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDYN-AS1",
"gene_hgnc_id": 53462,
"hgvs_c": "n.1216+14477C>T",
"hgvs_p": null,
"transcript": "ENST00000446562.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "PDYN-AS1",
"gene_hgnc_id": 53462,
"hgvs_c": "n.475+14477C>T",
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"transcript": "ENST00000651021.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "PDYN-AS1",
"gene_hgnc_id": 53462,
"hgvs_c": "n.1252+14477C>T",
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"transcript": "NR_134520.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1838,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "PDYN",
"gene_hgnc_id": 8820,
"hgvs_c": "c.*63G>A",
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"transcript": "ENST00000652436.1",
"protein_id": "ENSP00000499024.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": -4,
"cds_end": null,
"cds_length": 205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDYN",
"gene_hgnc_id": 8820,
"dbsnp": "rs201585283",
"frequency_reference_population": 0.00013444042,
"hom_count_reference_population": 1,
"allele_count_reference_population": 217,
"gnomad_exomes_af": 0.000132705,
"gnomad_genomes_af": 0.000151113,
"gnomad_exomes_ac": 194,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007458686828613281,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.1001,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.41,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000217305.3",
"gene_symbol": "PDYN",
"hgnc_id": 8820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Gly90Arg"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000446562.1",
"gene_symbol": "PDYN-AS1",
"hgnc_id": 53462,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1216+14477C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}