← 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: 12-68302709-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68302709&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68302709,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001354969.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1913A>G",
"hgvs_p": "p.Gln638Arg",
"transcript": "NM_001354969.2",
"protein_id": "NP_001341898.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 724,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "ENST00000682720.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354969.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1913A>G",
"hgvs_p": "p.Gln638Arg",
"transcript": "ENST00000682720.1",
"protein_id": "ENSP00000507100.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 724,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": "NM_001354969.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682720.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1883A>G",
"hgvs_p": "p.Gln628Arg",
"transcript": "ENST00000303145.11",
"protein_id": "ENSP00000302537.7",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 714,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303145.11"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*1377A>G",
"hgvs_p": null,
"transcript": "ENST00000540418.5",
"protein_id": "ENSP00000443815.2",
"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": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540418.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*1377A>G",
"hgvs_p": null,
"transcript": "ENST00000540418.5",
"protein_id": "ENSP00000443815.2",
"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": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540418.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1883A>G",
"hgvs_p": "p.Gln628Arg",
"transcript": "NM_017440.6",
"protein_id": "NP_059136.2",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 714,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017440.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1778A>G",
"hgvs_p": "p.Gln593Arg",
"transcript": "NM_001205028.3",
"protein_id": "NP_001191957.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 679,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205028.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1778A>G",
"hgvs_p": "p.Gln593Arg",
"transcript": "ENST00000411698.6",
"protein_id": "ENSP00000391006.2",
"transcript_support_level": 2,
"aa_start": 593,
"aa_end": null,
"aa_length": 679,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411698.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1763A>G",
"hgvs_p": "p.Gln588Arg",
"transcript": "NM_001354970.2",
"protein_id": "NP_001341899.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 674,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354970.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1748A>G",
"hgvs_p": "p.Gln583Arg",
"transcript": "ENST00000890140.1",
"protein_id": "ENSP00000560199.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 669,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890140.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Gln536Arg",
"transcript": "ENST00000890142.1",
"protein_id": "ENSP00000560201.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 622,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890142.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Gln491Arg",
"transcript": "ENST00000890141.1",
"protein_id": "ENSP00000560200.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 577,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890141.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Gln358Arg",
"transcript": "NM_001354971.2",
"protein_id": "NP_001341900.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 444,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354971.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Gln358Arg",
"transcript": "NM_001354972.2",
"protein_id": "NP_001341901.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 444,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354972.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Gln358Arg",
"transcript": "NM_001354973.2",
"protein_id": "NP_001341902.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 444,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354973.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Gln358Arg",
"transcript": "NM_001368282.1",
"protein_id": "NP_001355211.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 444,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368282.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.Gln348Arg",
"transcript": "NM_001354974.2",
"protein_id": "NP_001341903.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 434,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354974.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.164A>G",
"hgvs_p": "p.Gln55Arg",
"transcript": "ENST00000539972.5",
"protein_id": "ENSP00000445181.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 121,
"cds_start": 164,
"cds_end": null,
"cds_length": 366,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539972.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Gln536Arg",
"transcript": "XM_047429160.1",
"protein_id": "XP_047285116.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 622,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429160.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1472A>G",
"hgvs_p": "p.Gln491Arg",
"transcript": "XM_047429161.1",
"protein_id": "XP_047285117.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 577,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429161.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Gln358Arg",
"transcript": "XM_047429163.1",
"protein_id": "XP_047285119.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 444,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429163.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303715",
"gene_hgnc_id": null,
"hgvs_c": "n.135-9705T>C",
"hgvs_p": null,
"transcript": "ENST00000796708.1",
"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": 368,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000796708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"hgvs_c": "n.*94A>G",
"hgvs_p": null,
"transcript": "ENST00000536313.2",
"protein_id": null,
"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": 883,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000536313.2"
}
],
"gene_symbol": "MDM1",
"gene_hgnc_id": 29917,
"dbsnp": "rs903163276",
"frequency_reference_population": 0.000002478413,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000136815,
"gnomad_genomes_af": 0.0000131487,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.067217618227005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0744,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.361,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001354969.2",
"gene_symbol": "MDM1",
"hgnc_id": 29917,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1913A>G",
"hgvs_p": "p.Gln638Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000796708.1",
"gene_symbol": "ENSG00000303715",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.135-9705T>C",
"hgvs_p": null
}
],
"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
}