← 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: 11-57614450-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57614450&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPING1",
"hgnc_id": 1228,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"inheritance_mode": "AD,SD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_000062.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.4422,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "11",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Hereditary C1 esterase inhibitor deficiency - dysfunctional factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9882670640945435,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000062.3",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278407.9",
"protein_coding": true,
"protein_id": "NP_000053.2",
"strand": true,
"transcript": "NM_000062.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000278407.9",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000062.3",
"protein_coding": true,
"protein_id": "ENSP00000278407.4",
"strand": true,
"transcript": "ENST00000278407.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 432,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000619430.2",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478572.2",
"strand": true,
"transcript": "ENST00000619430.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531133.5",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*741G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435431.1",
"strand": true,
"transcript": "ENST00000531133.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000531797.5",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*397G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432554.1",
"strand": true,
"transcript": "ENST00000531797.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531133.5",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*741G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435431.1",
"strand": true,
"transcript": "ENST00000531133.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000531797.5",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*397G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432554.1",
"strand": true,
"transcript": "ENST00000531797.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1501,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000403558.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Ala501Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384420.1",
"strand": true,
"transcript": "ENST00000403558.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 533,
"aa_ref": "A",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879480.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Ala491Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549539.1",
"strand": true,
"transcript": "ENST00000879480.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879475.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Ala469Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549534.1",
"strand": true,
"transcript": "ENST00000879475.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879473.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Ala467Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549532.1",
"strand": true,
"transcript": "ENST00000879473.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000378323.8",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367574.4",
"strand": true,
"transcript": "ENST00000378323.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879485.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549544.1",
"strand": true,
"transcript": "ENST00000879485.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1387,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879488.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Ala463Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549547.1",
"strand": true,
"transcript": "ENST00000879488.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001032295.2",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027466.1",
"strand": true,
"transcript": "NM_001032295.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000676670.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504807.1",
"strand": true,
"transcript": "ENST00000676670.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879467.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549526.1",
"strand": true,
"transcript": "ENST00000879467.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 2160,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879468.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549527.1",
"strand": true,
"transcript": "ENST00000879468.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879469.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549528.1",
"strand": true,
"transcript": "ENST00000879469.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879474.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549533.1",
"strand": true,
"transcript": "ENST00000879474.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879477.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549536.1",
"strand": true,
"transcript": "ENST00000879477.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879479.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549538.1",
"strand": true,
"transcript": "ENST00000879479.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879482.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549541.1",
"strand": true,
"transcript": "ENST00000879482.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879483.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549542.1",
"strand": true,
"transcript": "ENST00000879483.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879484.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549543.1",
"strand": true,
"transcript": "ENST00000879484.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948717.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618776.1",
"strand": true,
"transcript": "ENST00000948717.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879478.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549537.1",
"strand": true,
"transcript": "ENST00000879478.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 497,
"aa_ref": "A",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879481.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Ala455Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549540.1",
"strand": true,
"transcript": "ENST00000879481.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 485,
"aa_ref": "A",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879476.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Ala443Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549535.1",
"strand": true,
"transcript": "ENST00000879476.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1318,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000677625.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Ala440Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502857.1",
"strand": true,
"transcript": "ENST00000677625.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 482,
"aa_ref": "A",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1318,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879472.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1318G>A",
"hgvs_p": "p.Ala440Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549531.1",
"strand": true,
"transcript": "ENST00000879472.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 463,
"aa_ref": "A",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1261,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000340687.10",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1261G>A",
"hgvs_p": "p.Ala421Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341861.6",
"strand": true,
"transcript": "ENST00000340687.10",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879471.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549530.1",
"strand": true,
"transcript": "ENST00000879471.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000378324.6",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Ala406Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367575.2",
"strand": true,
"transcript": "ENST00000378324.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 312,
"aa_ref": "A",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 904,
"cds_end": null,
"cds_length": 939,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000879470.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Ala270Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549529.1",
"strand": true,
"transcript": "ENST00000879470.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 174,
"aa_ref": "A",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 846,
"cdna_start": 449,
"cds_end": null,
"cds_length": 525,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879486.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549545.1",
"strand": true,
"transcript": "ENST00000879486.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 174,
"aa_ref": "A",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 909,
"cdna_start": 511,
"cds_end": null,
"cds_length": 525,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879487.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549546.1",
"strand": true,
"transcript": "ENST00000879487.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528996.2",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*269G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431226.2",
"strand": true,
"transcript": "ENST00000528996.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530113.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.829G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000530113.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531605.2",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*1148G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503752.1",
"strand": true,
"transcript": "ENST00000531605.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676741.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.2454G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000676741.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000677624.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*792G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503979.1",
"strand": true,
"transcript": "ENST00000677624.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000677856.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.1625G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000677856.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000677915.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*269G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503118.1",
"strand": true,
"transcript": "ENST00000677915.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000678533.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*926G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503873.1",
"strand": true,
"transcript": "ENST00000678533.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000678592.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*312G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504424.1",
"strand": true,
"transcript": "ENST00000678592.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528996.2",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*269G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431226.2",
"strand": true,
"transcript": "ENST00000528996.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000531605.2",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*1148G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503752.1",
"strand": true,
"transcript": "ENST00000531605.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000677624.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*792G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503979.1",
"strand": true,
"transcript": "ENST00000677624.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000677915.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*269G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503118.1",
"strand": true,
"transcript": "ENST00000677915.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000678533.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*926G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503873.1",
"strand": true,
"transcript": "ENST00000678533.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000678592.1",
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"hgvs_c": "n.*312G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504424.1",
"strand": true,
"transcript": "ENST00000678592.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121907947",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1228,
"gene_symbol": "SERPING1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Hereditary C1 esterase inhibitor deficiency - dysfunctional factor",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.518,
"pos": 57614450,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.634,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000062.3"
}
]
}