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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: 7-105040974-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=105040974&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 105040974,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018682.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "NM_182931.3",
"protein_id": "NP_891847.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1858,
"cds_start": 22,
"cds_end": null,
"cds_length": 5577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311117.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182931.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "ENST00000311117.8",
"protein_id": "ENSP00000312379.3",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 1858,
"cds_start": 22,
"cds_end": null,
"cds_length": 5577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182931.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311117.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "ENST00000473063.2",
"protein_id": "ENSP00000417156.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 1816,
"cds_start": 22,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473063.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "ENST00000476671.5",
"protein_id": "ENSP00000417888.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 609,
"cds_start": 22,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476671.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "ENST00000495267.5",
"protein_id": "ENSP00000420415.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 229,
"cds_start": 22,
"cds_end": null,
"cds_length": 691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495267.5"
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "n.22G>C",
"hgvs_p": null,
"transcript": "ENST00000257745.9",
"protein_id": "ENSP00000257745.5",
"transcript_support_level": 1,
"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": "ENST00000257745.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "NM_018682.4",
"protein_id": "NP_061152.3",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1858,
"cds_start": 22,
"cds_end": null,
"cds_length": 5577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018682.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "NM_001410908.1",
"protein_id": "NP_001397837.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1816,
"cds_start": 22,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410908.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "ENST00000479838.3",
"protein_id": "ENSP00000473963.2",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 733,
"cds_start": 22,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479838.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "ENST00000474203.6",
"protein_id": "ENSP00000420206.2",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 609,
"cds_start": 22,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474203.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "ENST00000478990.6",
"protein_id": "ENSP00000419883.2",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 467,
"cds_start": 22,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478990.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "ENST00000622386.2",
"protein_id": "ENSP00000482147.2",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 340,
"cds_start": 22,
"cds_end": null,
"cds_length": 1024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622386.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "XM_005250493.2",
"protein_id": "XP_005250550.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1858,
"cds_start": 22,
"cds_end": null,
"cds_length": 5577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250493.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "XM_011516400.3",
"protein_id": "XP_011514702.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1858,
"cds_start": 22,
"cds_end": null,
"cds_length": 5577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516400.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg",
"transcript": "XM_047420613.1",
"protein_id": "XP_047276569.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 1168,
"cds_start": 22,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420613.1"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "n.22G>C",
"hgvs_p": null,
"transcript": "ENST00000334884.9",
"protein_id": "ENSP00000335398.5",
"transcript_support_level": 5,
"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": "ENST00000334884.9"
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "n.22G>C",
"hgvs_p": null,
"transcript": "ENST00000478079.2",
"protein_id": "ENSP00000419525.2",
"transcript_support_level": 5,
"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": "ENST00000478079.2"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "n.22G>C",
"hgvs_p": null,
"transcript": "ENST00000482560.6",
"protein_id": "ENSP00000417193.2",
"transcript_support_level": 5,
"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": "ENST00000482560.6"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "n.22G>C",
"hgvs_p": null,
"transcript": "ENST00000667857.1",
"protein_id": "ENSP00000499735.1",
"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": "ENST00000667857.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "n.22G>C",
"hgvs_p": null,
"transcript": "ENST00000700336.1",
"protein_id": "ENSP00000514954.1",
"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": "ENST00000700336.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "n.467G>C",
"hgvs_p": null,
"transcript": "ENST00000700500.1",
"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": "ENST00000700500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288914",
"gene_hgnc_id": null,
"hgvs_c": "c.*18G>C",
"hgvs_p": null,
"transcript": "ENST00000688005.1",
"protein_id": "ENSP00000510606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 32,
"cds_start": null,
"cds_end": null,
"cds_length": 99,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688005.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289360",
"gene_hgnc_id": null,
"hgvs_c": "c.*49G>C",
"hgvs_p": null,
"transcript": "ENST00000685210.1",
"protein_id": "ENSP00000510327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 25,
"cds_start": null,
"cds_end": null,
"cds_length": 78,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"hgvs_c": "n.*118G>C",
"hgvs_p": null,
"transcript": "ENST00000480368.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000480368.5"
}
],
"gene_symbol": "KMT2E",
"gene_hgnc_id": 18541,
"dbsnp": "rs569333122",
"frequency_reference_population": 0.0000020529187,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205292,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7529686689376831,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.651,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6746,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018682.4",
"gene_symbol": "KMT2E",
"hgnc_id": 18541,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.22G>C",
"hgvs_p": "p.Gly8Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000688005.1",
"gene_symbol": "ENSG00000288914",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*18G>C",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000685210.1",
"gene_symbol": "ENSG00000289360",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*49G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}