← 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: 1-13778520-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=13778520&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 13778520,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012231.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "NM_001393986.1",
"protein_id": "NP_001380915.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1718,
"cds_start": 725,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311066.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393986.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "ENST00000311066.10",
"protein_id": "ENSP00000312352.6",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 1718,
"cds_start": 725,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393986.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311066.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "ENST00000235372.11",
"protein_id": "ENSP00000235372.6",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 1718,
"cds_start": 725,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000235372.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "ENST00000343137.8",
"protein_id": "ENSP00000341621.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 1481,
"cds_start": 122,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343137.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "ENST00000413440.5",
"protein_id": "ENSP00000411103.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 1481,
"cds_start": 122,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413440.5"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.19+5332C>T",
"hgvs_p": null,
"transcript": "ENST00000503842.5",
"protein_id": "ENSP00000425028.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503842.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.19+5332C>T",
"hgvs_p": null,
"transcript": "ENST00000505823.5",
"protein_id": "ENSP00000426737.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505823.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "NM_012231.5",
"protein_id": "NP_036363.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1718,
"cds_start": 725,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012231.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu",
"transcript": "NM_015866.6",
"protein_id": "NP_056950.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 1682,
"cds_start": 725,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015866.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "NM_001393987.1",
"protein_id": "NP_001380916.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1517,
"cds_start": 122,
"cds_end": null,
"cds_length": 4554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393987.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "NM_001007257.3",
"protein_id": "NP_001007258.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1481,
"cds_start": 122,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007257.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "NM_001393988.1",
"protein_id": "NP_001380917.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1481,
"cds_start": 122,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393988.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "ENST00000407521.7",
"protein_id": "ENSP00000384430.3",
"transcript_support_level": 4,
"aa_start": 41,
"aa_end": null,
"aa_length": 77,
"cds_start": 122,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407521.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Pro241Leu",
"transcript": "XM_047429996.1",
"protein_id": "XP_047285952.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1717,
"cds_start": 722,
"cds_end": null,
"cds_length": 5154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429996.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "XM_047429994.1",
"protein_id": "XP_047285950.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 1644,
"cds_start": 503,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429994.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "XM_047429995.1",
"protein_id": "XP_047285951.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 1608,
"cds_start": 503,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429995.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "XM_017002260.3",
"protein_id": "XP_016857749.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1517,
"cds_start": 122,
"cds_end": null,
"cds_length": 4554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002260.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "XM_017002261.3",
"protein_id": "XP_016857750.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1517,
"cds_start": 122,
"cds_end": null,
"cds_length": 4554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002261.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "XM_047429997.1",
"protein_id": "XP_047285953.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1517,
"cds_start": 122,
"cds_end": null,
"cds_length": 4554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429997.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "XM_047429998.1",
"protein_id": "XP_047285954.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1481,
"cds_start": 122,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429998.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.511+29033C>T",
"hgvs_p": null,
"transcript": "NM_001135610.2",
"protein_id": "NP_001129082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135610.2"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.511+29033C>T",
"hgvs_p": null,
"transcript": "ENST00000376048.9",
"protein_id": "ENSP00000365216.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376048.9"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "n.*412+5332C>T",
"hgvs_p": null,
"transcript": "ENST00000491134.5",
"protein_id": "ENSP00000424253.1",
"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": "ENST00000491134.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.*57C>T",
"hgvs_p": null,
"transcript": "ENST00000487453.1",
"protein_id": "ENSP00000474273.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 20,
"cds_start": null,
"cds_end": null,
"cds_length": 65,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487453.1"
}
],
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"dbsnp": "rs565636821",
"frequency_reference_population": 0.0000012391067,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1776312291622162,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.0703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.1,
"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": "NM_012231.5",
"gene_symbol": "PRDM2",
"hgnc_id": 9347,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Pro242Leu"
}
],
"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
}