← 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: 7-131505966-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=131505966&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 131505966,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001018111.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1381C>A",
"hgvs_p": "p.Pro461Thr",
"transcript": "NM_001018111.3",
"protein_id": "NP_001018121.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 558,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378555.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018111.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1381C>A",
"hgvs_p": "p.Pro461Thr",
"transcript": "ENST00000378555.8",
"protein_id": "ENSP00000367817.3",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 558,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018111.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378555.8"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1285C>A",
"hgvs_p": "p.Pro429Thr",
"transcript": "ENST00000322985.9",
"protein_id": "ENSP00000319782.9",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 526,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322985.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1501C>A",
"hgvs_p": "p.Pro501Thr",
"transcript": "ENST00000923671.1",
"protein_id": "ENSP00000593730.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 598,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923671.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1423C>A",
"hgvs_p": "p.Pro475Thr",
"transcript": "ENST00000923670.1",
"protein_id": "ENSP00000593729.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 572,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923670.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1405C>A",
"hgvs_p": "p.Pro469Thr",
"transcript": "ENST00000875720.1",
"protein_id": "ENSP00000545779.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 566,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875720.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1405C>A",
"hgvs_p": "p.Pro469Thr",
"transcript": "ENST00000875721.1",
"protein_id": "ENSP00000545780.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 565,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875721.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1381C>A",
"hgvs_p": "p.Pro461Thr",
"transcript": "ENST00000875716.1",
"protein_id": "ENSP00000545775.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 557,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875716.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1378C>A",
"hgvs_p": "p.Pro460Thr",
"transcript": "ENST00000875719.1",
"protein_id": "ENSP00000545778.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 557,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875719.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1378C>A",
"hgvs_p": "p.Pro460Thr",
"transcript": "ENST00000875717.1",
"protein_id": "ENSP00000545776.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 556,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875717.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1327C>A",
"hgvs_p": "p.Pro443Thr",
"transcript": "ENST00000923667.1",
"protein_id": "ENSP00000593726.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 540,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923667.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1327C>A",
"hgvs_p": "p.Pro443Thr",
"transcript": "ENST00000923669.1",
"protein_id": "ENSP00000593728.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 539,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923669.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1300C>A",
"hgvs_p": "p.Pro434Thr",
"transcript": "ENST00000923675.1",
"protein_id": "ENSP00000593734.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 530,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923675.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1381C>A",
"hgvs_p": "p.Pro461Thr",
"transcript": "ENST00000875718.1",
"protein_id": "ENSP00000545777.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 528,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875718.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1285C>A",
"hgvs_p": "p.Pro429Thr",
"transcript": "NM_005397.4",
"protein_id": "NP_005388.2",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 526,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005397.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1285C>A",
"hgvs_p": "p.Pro429Thr",
"transcript": "ENST00000875715.1",
"protein_id": "ENSP00000545774.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 525,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875715.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1207C>A",
"hgvs_p": "p.Pro403Thr",
"transcript": "ENST00000923672.1",
"protein_id": "ENSP00000593731.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 500,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923672.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.1285C>A",
"hgvs_p": "p.Pro429Thr",
"transcript": "ENST00000923668.1",
"protein_id": "ENSP00000593727.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 496,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923668.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Pro227Thr",
"transcript": "ENST00000923674.1",
"protein_id": "ENSP00000593733.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 324,
"cds_start": 679,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923674.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "c.232C>A",
"hgvs_p": "p.Pro78Thr",
"transcript": "ENST00000923673.1",
"protein_id": "ENSP00000593732.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 175,
"cds_start": 232,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "n.*646C>A",
"hgvs_p": null,
"transcript": "ENST00000446198.5",
"protein_id": "ENSP00000390152.1",
"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": "ENST00000446198.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "n.140C>A",
"hgvs_p": null,
"transcript": "ENST00000484346.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000484346.1"
},
{
"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": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "n.732C>A",
"hgvs_p": null,
"transcript": "ENST00000487965.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000487965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "n.481C>A",
"hgvs_p": null,
"transcript": "ENST00000490761.5",
"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": "retained_intron",
"feature": "ENST00000490761.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"hgvs_c": "n.*646C>A",
"hgvs_p": null,
"transcript": "ENST00000446198.5",
"protein_id": "ENSP00000390152.1",
"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": "ENST00000446198.5"
}
],
"gene_symbol": "PODXL",
"gene_hgnc_id": 9171,
"dbsnp": "rs869312170",
"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": 0.8576188087463379,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.396,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9466,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.866,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001018111.3",
"gene_symbol": "PODXL",
"hgnc_id": 9171,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1381C>A",
"hgvs_p": "p.Pro461Thr"
}
],
"clinvar_disease": " late-onset,Parkinson disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Parkinson disease, late-onset",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}