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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: 19-54275986-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54275986&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54275986,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005874.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1612A>G",
"hgvs_p": "p.Thr538Ala",
"transcript": "NM_001080978.4",
"protein_id": "NP_001074447.2",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 597,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314446.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080978.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1612A>G",
"hgvs_p": "p.Thr538Ala",
"transcript": "ENST00000314446.10",
"protein_id": "ENSP00000319960.5",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 597,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080978.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314446.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala",
"transcript": "ENST00000391749.4",
"protein_id": "ENSP00000375629.4",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 598,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391749.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1612A>G",
"hgvs_p": "p.Thr538Ala",
"transcript": "ENST00000391748.5",
"protein_id": "ENSP00000375628.1",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 597,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391748.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.*6A>G",
"hgvs_p": null,
"transcript": "ENST00000391746.5",
"protein_id": "ENSP00000375626.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391746.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "n.2420A>G",
"hgvs_p": null,
"transcript": "ENST00000493242.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493242.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1627A>G",
"hgvs_p": "p.Thr543Ala",
"transcript": "ENST00000872967.1",
"protein_id": "ENSP00000543026.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 602,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872967.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000872965.1",
"protein_id": "ENSP00000543024.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 599,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872965.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala",
"transcript": "NM_005874.5",
"protein_id": "NP_005865.3",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 598,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005874.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala",
"transcript": "ENST00000872963.1",
"protein_id": "ENSP00000543022.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 598,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872963.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1612A>G",
"hgvs_p": "p.Thr538Ala",
"transcript": "NM_001278403.3",
"protein_id": "NP_001265332.2",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 597,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278403.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1612A>G",
"hgvs_p": "p.Thr538Ala",
"transcript": "ENST00000872966.1",
"protein_id": "ENSP00000543025.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 597,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872966.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Thr528Ala",
"transcript": "ENST00000872964.1",
"protein_id": "ENSP00000543023.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 587,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872964.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1564A>G",
"hgvs_p": "p.Thr522Ala",
"transcript": "ENST00000949069.1",
"protein_id": "ENSP00000619128.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 581,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949069.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1561A>G",
"hgvs_p": "p.Thr521Ala",
"transcript": "ENST00000949070.1",
"protein_id": "ENSP00000619129.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 580,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949070.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Thr498Ala",
"transcript": "ENST00000872968.1",
"protein_id": "ENSP00000543027.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 557,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872968.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Thr498Ala",
"transcript": "ENST00000949068.1",
"protein_id": "ENSP00000619127.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 557,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949068.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000949071.1",
"protein_id": "ENSP00000619130.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 556,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949071.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "NM_001278404.3",
"protein_id": "NP_001265333.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 482,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278404.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.1267A>G",
"hgvs_p": "p.Thr423Ala",
"transcript": "ENST00000434421.5",
"protein_id": "ENSP00000410117.1",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 482,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434421.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "c.*6A>G",
"hgvs_p": null,
"transcript": "NM_001278405.2",
"protein_id": "NP_001265334.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278405.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "n.*27A>G",
"hgvs_p": null,
"transcript": "ENST00000455108.5",
"protein_id": "ENSP00000394130.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000455108.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "n.1794A>G",
"hgvs_p": null,
"transcript": "NR_103521.3",
"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": "NR_103521.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"hgvs_c": "n.*27A>G",
"hgvs_p": null,
"transcript": "ENST00000455108.5",
"protein_id": "ENSP00000394130.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000455108.5"
}
],
"gene_symbol": "LILRB2",
"gene_hgnc_id": 6606,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84084e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15216350555419922,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.0932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.78,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005874.5",
"gene_symbol": "LILRB2",
"hgnc_id": 6606,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Thr539Ala"
}
],
"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
}