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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: 17-2061601-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2061601&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2061601,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017575.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.4151G>A",
"hgvs_p": "p.Arg1384Gln",
"transcript": "NM_017575.5",
"protein_id": "NP_060045.4",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 1419,
"cds_start": 4151,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263073.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017575.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.4151G>A",
"hgvs_p": "p.Arg1384Gln",
"transcript": "ENST00000263073.11",
"protein_id": "ENSP00000263073.5",
"transcript_support_level": 1,
"aa_start": 1384,
"aa_end": null,
"aa_length": 1419,
"cds_start": 4151,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017575.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263073.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "ENST00000354901.8",
"protein_id": "ENSP00000346977.4",
"transcript_support_level": 1,
"aa_start": 476,
"aa_end": null,
"aa_length": 511,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354901.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIC1",
"gene_hgnc_id": 4909,
"hgvs_c": "c.*2766C>T",
"hgvs_p": null,
"transcript": "NM_006497.4",
"protein_id": "NP_006488.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": null,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619757.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006497.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIC1",
"gene_hgnc_id": 4909,
"hgvs_c": "c.*2766C>T",
"hgvs_p": null,
"transcript": "ENST00000619757.5",
"protein_id": "ENSP00000477858.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": null,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006497.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619757.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.2481G>A",
"hgvs_p": null,
"transcript": "ENST00000573166.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000573166.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.3974G>A",
"hgvs_p": "p.Arg1325Gln",
"transcript": "ENST00000883972.1",
"protein_id": "ENSP00000554031.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3974,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883972.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "NM_001256827.2",
"protein_id": "NP_001243756.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 511,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256827.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "NM_001256828.1",
"protein_id": "NP_001243757.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 511,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256828.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "ENST00000536871.6",
"protein_id": "ENSP00000440283.2",
"transcript_support_level": 2,
"aa_start": 476,
"aa_end": null,
"aa_length": 511,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536871.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "NM_001282326.2",
"protein_id": "NP_001269255.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 330,
"cds_start": 884,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282326.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.4058G>A",
"hgvs_p": "p.Arg1353Gln",
"transcript": "XM_005256569.5",
"protein_id": "XP_005256626.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1388,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256569.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.4058G>A",
"hgvs_p": "p.Arg1353Gln",
"transcript": "XM_011523769.3",
"protein_id": "XP_011522071.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1388,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523769.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.4058G>A",
"hgvs_p": "p.Arg1353Gln",
"transcript": "XM_047435696.1",
"protein_id": "XP_047291652.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1388,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435696.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "XM_005256571.6",
"protein_id": "XP_005256628.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 511,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256571.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "XM_011523775.3",
"protein_id": "XP_011522077.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 511,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523775.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "XM_017024399.3",
"protein_id": "XP_016879888.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 511,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024399.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Arg476Gln",
"transcript": "XM_047435699.1",
"protein_id": "XP_047291655.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 511,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435699.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Gln",
"transcript": "XM_047435700.1",
"protein_id": "XP_047291656.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 330,
"cds_start": 884,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.701G>A",
"hgvs_p": null,
"transcript": "ENST00000570756.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000570756.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.403G>A",
"hgvs_p": null,
"transcript": "ENST00000573153.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000573153.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.551G>A",
"hgvs_p": null,
"transcript": "ENST00000573827.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000573827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.657G>A",
"hgvs_p": null,
"transcript": "ENST00000574501.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000574501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"hgvs_c": "n.675G>A",
"hgvs_p": null,
"transcript": "ENST00000576218.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000576218.5"
}
],
"gene_symbol": "SMG6",
"gene_hgnc_id": 17809,
"dbsnp": "rs867472768",
"frequency_reference_population": 0.0000056354143,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000563541,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5437238812446594,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.345,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9841,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.444,
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017575.5",
"gene_symbol": "SMG6",
"hgnc_id": 17809,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4151G>A",
"hgvs_p": "p.Arg1384Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006497.4",
"gene_symbol": "HIC1",
"hgnc_id": 4909,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*2766C>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
}