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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: 2-127421397-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127421397&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127421397,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000234071.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "NM_000312.4",
"protein_id": "NP_000303.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 461,
"cds_start": 185,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": "ENST00000234071.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "ENST00000234071.8",
"protein_id": "ENSP00000234071.4",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 461,
"cds_start": 185,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": "NM_000312.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Glu90Ala",
"transcript": "NM_001375607.1",
"protein_id": "NP_001362536.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 523,
"cds_start": 269,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Glu123Ala",
"transcript": "NM_001375602.1",
"protein_id": "NP_001362531.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 522,
"cds_start": 368,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001375606.1",
"protein_id": "NP_001362535.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 517,
"cds_start": 248,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001375603.1",
"protein_id": "NP_001362532.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 516,
"cds_start": 248,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "NM_001375605.1",
"protein_id": "NP_001362534.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 495,
"cds_start": 185,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "ENST00000409048.1",
"protein_id": "ENSP00000386679.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 495,
"cds_start": 185,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.248A>C",
"hgvs_p": "p.Glu83Ala",
"transcript": "NM_001375604.1",
"protein_id": "NP_001362533.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 482,
"cds_start": 248,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "NM_001375611.1",
"protein_id": "NP_001362540.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 461,
"cds_start": 185,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "NM_001375613.1",
"protein_id": "NP_001362542.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 461,
"cds_start": 185,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.179A>C",
"hgvs_p": "p.Glu60Ala",
"transcript": "NM_001375610.1",
"protein_id": "NP_001362539.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 459,
"cds_start": 179,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.161A>C",
"hgvs_p": "p.Glu54Ala",
"transcript": "NM_001375609.1",
"protein_id": "NP_001362538.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 453,
"cds_start": 161,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "NM_001375608.1",
"protein_id": "NP_001362537.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 442,
"cds_start": 185,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "ENST00000442644.5",
"protein_id": "ENSP00000411241.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 174,
"cds_start": 185,
"cds_end": null,
"cds_length": 525,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "ENST00000429925.5",
"protein_id": "ENSP00000412697.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 125,
"cds_start": 185,
"cds_end": null,
"cds_length": 379,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala",
"transcript": "ENST00000427769.5",
"protein_id": "ENSP00000406295.1",
"transcript_support_level": 4,
"aa_start": 62,
"aa_end": null,
"aa_length": 115,
"cds_start": 185,
"cds_end": null,
"cds_length": 348,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.368A>C",
"hgvs_p": "p.Glu123Ala",
"transcript": "XM_024453003.2",
"protein_id": "XP_024308771.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 556,
"cds_start": 368,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.272A>C",
"hgvs_p": "p.Glu91Ala",
"transcript": "XM_047445117.1",
"protein_id": "XP_047301073.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 524,
"cds_start": 272,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "n.150A>C",
"hgvs_p": null,
"transcript": "ENST00000419985.5",
"protein_id": "ENSP00000392606.1",
"transcript_support_level": 4,
"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": 500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "n.150A>C",
"hgvs_p": null,
"transcript": "ENST00000431364.1",
"protein_id": "ENSP00000391220.1",
"transcript_support_level": 4,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "n.268A>C",
"hgvs_p": null,
"transcript": "ENST00000474030.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.-233A>C",
"hgvs_p": null,
"transcript": "XM_024453002.2",
"protein_id": "XP_024308770.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.-233A>C",
"hgvs_p": null,
"transcript": "XM_047445118.1",
"protein_id": "XP_047301074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.-383A>C",
"hgvs_p": null,
"transcript": "XM_017004505.2",
"protein_id": "XP_016859994.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"dbsnp": "rs121918148",
"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": 0.9522018432617188,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.959,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7245,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.948,
"phylop100way_prediction": "Pathogenic",
"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": 17,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 17,
"benign_score": 0,
"pathogenic_score": 17,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000234071.8",
"gene_symbol": "PROC",
"hgnc_id": 9451,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.185A>C",
"hgvs_p": "p.Glu62Ala"
}
],
"clinvar_disease": " autosomal recessive,PROC-related disorder,Thrombophilia due to protein C deficiency,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Thrombophilia due to protein C deficiency, autosomal recessive|PROC-related disorder|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}