← Back to variant description
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: 4-10075404-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=10075404&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 10075404,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000499869.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1795G>C",
"hgvs_p": "p.Val599Leu",
"transcript": "NM_017491.5",
"protein_id": "NP_059830.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 606,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": "ENST00000499869.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1795G>C",
"hgvs_p": "p.Val599Leu",
"transcript": "ENST00000499869.7",
"protein_id": "ENSP00000427687.1",
"transcript_support_level": 5,
"aa_start": 599,
"aa_end": null,
"aa_length": 606,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": "NM_017491.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1954G>C",
"hgvs_p": "p.Val652Leu",
"transcript": "ENST00000699794.1",
"protein_id": "ENSP00000514596.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 659,
"cds_start": 1954,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1714G>C",
"hgvs_p": "p.Val572Leu",
"transcript": "ENST00000699797.1",
"protein_id": "ENSP00000514600.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 579,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1375G>C",
"hgvs_p": "p.Val459Leu",
"transcript": "NM_005112.5",
"protein_id": "NP_005103.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 466,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1375G>C",
"hgvs_p": "p.Val459Leu",
"transcript": "ENST00000502702.6",
"protein_id": "ENSP00000426725.1",
"transcript_support_level": 5,
"aa_start": 459,
"aa_end": null,
"aa_length": 466,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.976G>C",
"hgvs_p": "p.Val326Leu",
"transcript": "ENST00000264785.12",
"protein_id": "ENSP00000514597.1",
"transcript_support_level": 4,
"aa_start": 326,
"aa_end": null,
"aa_length": 333,
"cds_start": 976,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1954G>C",
"hgvs_p": "p.Val652Leu",
"transcript": "XM_017008880.3",
"protein_id": "XP_016864369.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 659,
"cds_start": 1954,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1650G>C",
"hgvs_p": "p.Leu550Leu",
"transcript": "ENST00000699796.1",
"protein_id": "ENSP00000514599.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 572,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1350G>C",
"hgvs_p": null,
"transcript": "ENST00000502962.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1522G>C",
"hgvs_p": null,
"transcript": "ENST00000508949.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.4227G>C",
"hgvs_p": null,
"transcript": "ENST00000515743.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1807G>C",
"hgvs_p": null,
"transcript": "ENST00000699786.1",
"protein_id": "ENSP00000514592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1795G>C",
"hgvs_p": null,
"transcript": "ENST00000699787.1",
"protein_id": "ENSP00000514593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1375G>C",
"hgvs_p": null,
"transcript": "ENST00000699788.1",
"protein_id": "ENSP00000514594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1375G>C",
"hgvs_p": null,
"transcript": "ENST00000699790.1",
"protein_id": "ENSP00000514595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1548G>C",
"hgvs_p": null,
"transcript": "ENST00000699791.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1457G>C",
"hgvs_p": null,
"transcript": "ENST00000699792.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.2156G>C",
"hgvs_p": null,
"transcript": "ENST00000699793.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.*1548G>C",
"hgvs_p": null,
"transcript": "ENST00000699795.1",
"protein_id": "ENSP00000514598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.*534G>C",
"hgvs_p": null,
"transcript": "ENST00000699798.1",
"protein_id": "ENSP00000514601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.*325G>C",
"hgvs_p": null,
"transcript": "ENST00000699799.1",
"protein_id": "ENSP00000514602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.*1548G>C",
"hgvs_p": null,
"transcript": "ENST00000699795.1",
"protein_id": "ENSP00000514598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.*534G>C",
"hgvs_p": null,
"transcript": "ENST00000699798.1",
"protein_id": "ENSP00000514601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.*325G>C",
"hgvs_p": null,
"transcript": "ENST00000699799.1",
"protein_id": "ENSP00000514602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"dbsnp": "rs372838574",
"frequency_reference_population": 0.00000371785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000013683,
"gnomad_genomes_af": 0.0000262867,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22885853052139282,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.3669,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.991,
"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": 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": "ENST00000499869.7",
"gene_symbol": "WDR1",
"hgnc_id": 12754,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1795G>C",
"hgvs_p": "p.Val599Leu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}