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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: 20-34852404-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34852404&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34852404,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_178026.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "NM_178026.3",
"protein_id": "NP_821158.2",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 662,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336431.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178026.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "ENST00000336431.10",
"protein_id": "ENSP00000338964.5",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 662,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178026.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336431.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1493T>C",
"hgvs_p": "p.Ile498Thr",
"transcript": "ENST00000885994.1",
"protein_id": "ENSP00000556053.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 675,
"cds_start": 1493,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885994.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Ile489Thr",
"transcript": "ENST00000885991.1",
"protein_id": "ENSP00000556050.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 666,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885991.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "ENST00000885992.1",
"protein_id": "ENSP00000556051.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 657,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885992.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1421T>C",
"hgvs_p": "p.Ile474Thr",
"transcript": "ENST00000885993.1",
"protein_id": "ENSP00000556052.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 651,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885993.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Ile473Thr",
"transcript": "ENST00000885990.1",
"protein_id": "ENSP00000556049.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 650,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885990.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "ENST00000885989.1",
"protein_id": "ENSP00000556048.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 642,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885989.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Ile452Thr",
"transcript": "ENST00000916021.1",
"protein_id": "ENSP00000586080.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 629,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916021.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "NM_001351702.2",
"protein_id": "NP_001338631.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 626,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351702.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "ENST00000916020.1",
"protein_id": "ENSP00000586079.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 616,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916020.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Ile372Thr",
"transcript": "ENST00000885988.1",
"protein_id": "ENSP00000556047.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 549,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885988.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Ile432Thr",
"transcript": "XM_047440107.1",
"protein_id": "XP_047296063.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 609,
"cds_start": 1295,
"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": "XM_047440107.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "XM_047440108.1",
"protein_id": "XP_047296064.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 609,
"cds_start": 1454,
"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": "XM_047440108.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "XM_047440109.1",
"protein_id": "XP_047296065.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 605,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440109.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "XM_047440110.1",
"protein_id": "XP_047296066.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 577,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440110.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr",
"transcript": "XM_017027811.2",
"protein_id": "XP_016883300.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 533,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027811.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.824T>C",
"hgvs_p": "p.Ile275Thr",
"transcript": "XM_047440111.1",
"protein_id": "XP_047296067.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 452,
"cds_start": 824,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440111.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.752T>C",
"hgvs_p": "p.Ile251Thr",
"transcript": "XM_011528782.3",
"protein_id": "XP_011527084.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 428,
"cds_start": 752,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528782.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.605T>C",
"hgvs_p": "p.Ile202Thr",
"transcript": "XM_011528783.4",
"protein_id": "XP_011527085.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 379,
"cds_start": 605,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528783.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.744-7001T>C",
"hgvs_p": null,
"transcript": "ENST00000916019.1",
"protein_id": "ENSP00000586078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916019.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "n.77T>C",
"hgvs_p": null,
"transcript": "ENST00000469018.5",
"protein_id": "ENSP00000486589.1",
"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": "ENST00000469018.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "n.1495T>C",
"hgvs_p": null,
"transcript": "XR_001754240.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001754240.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.-133T>C",
"hgvs_p": null,
"transcript": "ENST00000470952.2",
"protein_id": "ENSP00000486190.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470952.2"
}
],
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"dbsnp": "rs1477926349",
"frequency_reference_population": 0.000003717472,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342035,
"gnomad_genomes_af": 0.00000657194,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7339510321617126,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.332,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4787,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.66,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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_178026.3",
"gene_symbol": "GGT7",
"hgnc_id": 4259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1454T>C",
"hgvs_p": "p.Ile485Thr"
}
],
"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
}