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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: 9-3932370-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=3932370&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 3932370,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001042413.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "NM_001042413.2",
"protein_id": "NP_001035878.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 930,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381971.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042413.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "ENST00000381971.8",
"protein_id": "ENSP00000371398.3",
"transcript_support_level": 5,
"aa_start": 658,
"aa_end": null,
"aa_length": 930,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042413.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381971.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Ala503Gly",
"transcript": "ENST00000324333.14",
"protein_id": "ENSP00000325494.10",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 775,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324333.14"
},
{
"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": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.513C>G",
"hgvs_p": null,
"transcript": "ENST00000467497.6",
"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": "pseudogene",
"feature": "ENST00000467497.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.*1336C>G",
"hgvs_p": null,
"transcript": "ENST00000491889.6",
"protein_id": "ENSP00000419914.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000491889.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.*1336C>G",
"hgvs_p": null,
"transcript": "ENST00000491889.6",
"protein_id": "ENSP00000419914.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000491889.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "NM_001438906.1",
"protein_id": "NP_001425835.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 930,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438906.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "NM_001438907.1",
"protein_id": "NP_001425836.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 930,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438907.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "NM_001438908.1",
"protein_id": "NP_001425837.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 930,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438908.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Ala503Gly",
"transcript": "NM_001438909.1",
"protein_id": "NP_001425838.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 775,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438909.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Ala503Gly",
"transcript": "NM_152629.4",
"protein_id": "NP_689842.3",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 775,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152629.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Ala503Gly",
"transcript": "ENST00000682749.1",
"protein_id": "ENSP00000507306.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 775,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682749.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ala436Gly",
"transcript": "NM_001438911.1",
"protein_id": "NP_001425840.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 708,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438911.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ala436Gly",
"transcript": "NM_001438912.1",
"protein_id": "NP_001425841.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 708,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438912.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "XM_011517763.3",
"protein_id": "XP_011516065.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 930,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517763.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1718C>G",
"hgvs_p": "p.Ala573Gly",
"transcript": "XM_047422890.1",
"protein_id": "XP_047278846.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 845,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422890.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Ala503Gly",
"transcript": "XM_011517766.3",
"protein_id": "XP_011516068.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 775,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517766.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1508C>G",
"hgvs_p": "p.Ala503Gly",
"transcript": "XM_017014361.2",
"protein_id": "XP_016869850.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 775,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014361.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.329C>G",
"hgvs_p": null,
"transcript": "ENST00000461870.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000461870.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.263C>G",
"hgvs_p": null,
"transcript": "ENST00000463680.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463680.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.531C>G",
"hgvs_p": null,
"transcript": "ENST00000464391.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000464391.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.415C>G",
"hgvs_p": null,
"transcript": "ENST00000645252.2",
"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": "ENST00000645252.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.472C>G",
"hgvs_p": null,
"transcript": "ENST00000682864.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000682864.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.132-102878C>G",
"hgvs_p": null,
"transcript": "ENST00000682846.1",
"protein_id": "ENSP00000507527.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000682846.1"
}
],
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"dbsnp": "rs977500969",
"frequency_reference_population": 0.000002481947,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000020552,
"gnomad_genomes_af": 0.00000658207,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23424765467643738,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.2125,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.27,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001042413.2",
"gene_symbol": "GLIS3",
"hgnc_id": 28510,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly"
}
],
"clinvar_disease": "Inborn genetic diseases,Monogenic diabetes,Neonatal diabetes mellitus with congenital hypothyroidism",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "Monogenic diabetes|Inborn genetic diseases|Neonatal diabetes mellitus with congenital hypothyroidism",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}