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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: 3-51712910-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51712910&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51712910,
"ref": "T",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001349117.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "NM_000839.5",
"protein_id": "NP_000830.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 872,
"cds_start": 888,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": "ENST00000395052.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000839.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "ENST00000395052.8",
"protein_id": "ENSP00000378492.3",
"transcript_support_level": 2,
"aa_start": 296,
"aa_end": null,
"aa_length": 872,
"cds_start": 888,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": "NM_000839.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395052.8"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "n.888T>C",
"hgvs_p": null,
"transcript": "ENST00000296479.9",
"protein_id": "ENSP00000296479.5",
"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": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000296479.9"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "n.2567T>C",
"hgvs_p": null,
"transcript": "ENST00000464585.1",
"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": 6550,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "n.79-2152T>C",
"hgvs_p": null,
"transcript": "ENST00000475478.5",
"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": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475478.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.-462T>C",
"hgvs_p": null,
"transcript": "NM_001349117.2",
"protein_id": "NP_001336046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": null,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349117.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "ENST00000889628.1",
"protein_id": "ENSP00000559687.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 872,
"cds_start": 888,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889628.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "ENST00000889629.1",
"protein_id": "ENSP00000559688.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 872,
"cds_start": 888,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889629.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "ENST00000941332.1",
"protein_id": "ENSP00000611391.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 872,
"cds_start": 888,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941332.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "ENST00000442933.2",
"protein_id": "ENSP00000408906.2",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 594,
"cds_start": 888,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442933.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "XM_017006271.2",
"protein_id": "XP_016861760.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 872,
"cds_start": 888,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006271.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "XM_047448047.1",
"protein_id": "XP_047304003.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 840,
"cds_start": 888,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448047.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.306T>C",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_011533637.2",
"protein_id": "XP_011531939.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 678,
"cds_start": 306,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533637.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.306T>C",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047448048.1",
"protein_id": "XP_047304004.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 678,
"cds_start": 306,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448048.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.306T>C",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047448049.1",
"protein_id": "XP_047304005.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 678,
"cds_start": 306,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448049.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.306T>C",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047448050.1",
"protein_id": "XP_047304006.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 678,
"cds_start": 306,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448050.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.306T>C",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047448051.1",
"protein_id": "XP_047304007.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 678,
"cds_start": 306,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448051.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "XM_011533642.2",
"protein_id": "XP_011531944.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 470,
"cds_start": 888,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533642.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Gly296Gly",
"transcript": "XM_024453490.2",
"protein_id": "XP_024309258.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 435,
"cds_start": 888,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453490.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.-462T>C",
"hgvs_p": null,
"transcript": "NM_001349117.2",
"protein_id": "NP_001336046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": null,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349117.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.-138-109T>C",
"hgvs_p": null,
"transcript": "NM_001349116.2",
"protein_id": "NP_001336045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349116.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "c.451-109T>C",
"hgvs_p": null,
"transcript": "XM_011533636.2",
"protein_id": "XP_011531938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": null,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533636.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "n.886T>C",
"hgvs_p": null,
"transcript": "ENST00000496661.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"hgvs_c": "n.101-2152T>C",
"hgvs_p": null,
"transcript": "NR_146059.2",
"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": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146059.2"
}
],
"gene_symbol": "GRM2",
"gene_hgnc_id": 4594,
"dbsnp": "rs775361465",
"frequency_reference_population": 0.0000148800855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157456,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.046,
"phylop100way_prediction": "Benign",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001349117.2",
"gene_symbol": "GRM2",
"hgnc_id": 4594,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-462T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}