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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: 19-40235953-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40235953&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40235953,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000392038.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "NM_001626.6",
"protein_id": "NP_001617.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 481,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 5250,
"mane_select": "ENST00000392038.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "ENST00000392038.7",
"protein_id": "ENSP00000375892.2",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 481,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 5250,
"mane_select": "NM_001626.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "ENST00000579047.5",
"protein_id": "ENSP00000471369.1",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 450,
"cds_start": 926,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"transcript": "ENST00000311278.10",
"protein_id": "ENSP00000309428.6",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 438,
"cds_start": 983,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 1393,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*726G>A",
"hgvs_p": null,
"transcript": "ENST00000391844.8",
"protein_id": "ENSP00000375719.4",
"transcript_support_level": 1,
"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": 1795,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*726G>A",
"hgvs_p": null,
"transcript": "ENST00000391844.8",
"protein_id": "ENSP00000375719.4",
"transcript_support_level": 1,
"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": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"transcript": "NM_001330511.1",
"protein_id": "NP_001317440.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 438,
"cds_start": 983,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328His",
"transcript": "ENST00000424901.5",
"protein_id": "ENSP00000399532.2",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 438,
"cds_start": 983,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "NM_001243027.3",
"protein_id": "NP_001229956.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 419,
"cds_start": 926,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 5213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"transcript": "NM_001243028.3",
"protein_id": "NP_001229957.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 419,
"cds_start": 926,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330His",
"transcript": "ENST00000578615.6",
"protein_id": "ENSP00000463262.2",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 394,
"cds_start": 989,
"cds_end": null,
"cds_length": 1186,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.5G>A",
"hgvs_p": "p.Arg2His",
"transcript": "ENST00000497948.5",
"protein_id": "ENSP00000472382.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 116,
"cds_start": 5,
"cds_end": null,
"cds_length": 351,
"cdna_start": 6,
"cdna_end": null,
"cdna_length": 456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40His",
"transcript": "ENST00000476247.6",
"protein_id": "ENSP00000463368.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 106,
"cds_start": 119,
"cds_end": null,
"cds_length": 321,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 488,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.577G>A",
"hgvs_p": null,
"transcript": "ENST00000391845.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 636,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.1440G>A",
"hgvs_p": null,
"transcript": "ENST00000476266.5",
"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": 3309,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.2583G>A",
"hgvs_p": null,
"transcript": "ENST00000483166.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4454,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.77G>A",
"hgvs_p": null,
"transcript": "ENST00000489375.5",
"protein_id": "ENSP00000470822.1",
"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": 734,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.531G>A",
"hgvs_p": null,
"transcript": "ENST00000496089.6",
"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": 982,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*726G>A",
"hgvs_p": null,
"transcript": "ENST00000584288.5",
"protein_id": "ENSP00000462469.1",
"transcript_support_level": 2,
"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": 1706,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*726G>A",
"hgvs_p": null,
"transcript": "ENST00000584288.5",
"protein_id": "ENSP00000462469.1",
"transcript_support_level": 2,
"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": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*71G>A",
"hgvs_p": null,
"transcript": "ENST00000480878.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*71G>A",
"hgvs_p": null,
"transcript": "ENST00000486647.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*71G>A",
"hgvs_p": null,
"transcript": "ENST00000578282.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*71G>A",
"hgvs_p": null,
"transcript": "ENST00000579345.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"hgvs_c": "n.*79G>A",
"hgvs_p": null,
"transcript": "ENST00000580878.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKT2",
"gene_hgnc_id": 392,
"dbsnp": "rs778561687",
"frequency_reference_population": 0.000005577148,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547346,
"gnomad_genomes_af": 0.00000657333,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3718876242637634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.84,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392038.7",
"gene_symbol": "AKT2",
"hgnc_id": 392,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His"
}
],
"clinvar_disease": "Hypoinsulinemic hypoglycemia and body hemihypertrophy,Type 2 diabetes mellitus",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Type 2 diabetes mellitus;Hypoinsulinemic hypoglycemia and body hemihypertrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}