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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: 8-42179941-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42179941&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42179941,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000930.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "NM_000930.5",
"protein_id": "NP_000921.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 562,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220809.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000930.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "ENST00000220809.9",
"protein_id": "ENSP00000220809.4",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 562,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000930.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220809.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000352041.7",
"protein_id": "ENSP00000270188.6",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 516,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352041.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "ENST00000679300.1",
"protein_id": "ENSP00000503050.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 583,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679300.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Gly471Ser",
"transcript": "ENST00000884025.1",
"protein_id": "ENSP00000554084.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 583,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884025.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "ENST00000429089.6",
"protein_id": "ENSP00000392045.2",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 562,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429089.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "ENST00000679151.1",
"protein_id": "ENSP00000504311.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 562,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679151.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "ENST00000884022.1",
"protein_id": "ENSP00000554081.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 562,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884022.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "ENST00000884023.1",
"protein_id": "ENSP00000554082.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 562,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884023.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "ENST00000915840.1",
"protein_id": "ENSP00000585899.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 562,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915840.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser",
"transcript": "ENST00000944405.1",
"protein_id": "ENSP00000614464.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 562,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944405.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "NM_033011.4",
"protein_id": "NP_127509.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 516,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033011.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1159G>A",
"hgvs_p": "p.Gly387Ser",
"transcript": "ENST00000519510.5",
"protein_id": "ENSP00000428886.1",
"transcript_support_level": 5,
"aa_start": 387,
"aa_end": null,
"aa_length": 499,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519510.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Gly362Ser",
"transcript": "ENST00000944404.1",
"protein_id": "ENSP00000614463.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 474,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944404.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Gly361Ser",
"transcript": "NM_001319189.2",
"protein_id": "NP_001306118.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 473,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319189.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Gly361Ser",
"transcript": "ENST00000524009.5",
"protein_id": "ENSP00000429401.1",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 473,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524009.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Gly324Ser",
"transcript": "ENST00000429710.6",
"protein_id": "ENSP00000407861.2",
"transcript_support_level": 2,
"aa_start": 324,
"aa_end": null,
"aa_length": 436,
"cds_start": 970,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429710.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Gly278Ser",
"transcript": "ENST00000884024.1",
"protein_id": "ENSP00000554083.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 390,
"cds_start": 832,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.2286G>A",
"hgvs_p": null,
"transcript": "ENST00000677722.1",
"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": "retained_intron",
"feature": "ENST00000677722.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.*185G>A",
"hgvs_p": null,
"transcript": "ENST00000678083.1",
"protein_id": "ENSP00000504824.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.*707G>A",
"hgvs_p": null,
"transcript": "ENST00000678676.1",
"protein_id": "ENSP00000502858.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.*185G>A",
"hgvs_p": null,
"transcript": "ENST00000678083.1",
"protein_id": "ENSP00000504824.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"hgvs_c": "n.*707G>A",
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"transcript": "ENST00000678676.1",
"protein_id": "ENSP00000502858.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678676.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304994",
"gene_hgnc_id": null,
"hgvs_c": "n.-122C>T",
"hgvs_p": null,
"transcript": "ENST00000807592.1",
"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": "ENST00000807592.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304994",
"gene_hgnc_id": null,
"hgvs_c": "n.-156C>T",
"hgvs_p": null,
"transcript": "ENST00000807593.1",
"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": "ENST00000807593.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304994",
"gene_hgnc_id": null,
"hgvs_c": "n.-7C>T",
"hgvs_p": null,
"transcript": "ENST00000807594.1",
"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": "ENST00000807594.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "ENSG00000304994",
"gene_hgnc_id": null,
"hgvs_c": "n.-191C>T",
"hgvs_p": null,
"transcript": "ENST00000807595.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000807595.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAT",
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"hgvs_c": "n.*142G>A",
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"transcript": "ENST00000522812.1",
"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": "ENST00000522812.1"
}
],
"gene_symbol": "PLAT",
"gene_hgnc_id": 9051,
"dbsnp": "rs1043243956",
"frequency_reference_population": 0.000005620546,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000552097,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9909886717796326,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.952,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8684,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.27,
"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": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000930.5",
"gene_symbol": "PLAT",
"hgnc_id": 9051,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000807592.1",
"gene_symbol": "ENSG00000304994",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-122C>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
}