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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: 2-24210829-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24210829&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 24210829,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006277.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4208A>G",
"hgvs_p": "p.Asp1403Gly",
"transcript": "NM_006277.3",
"protein_id": "NP_006268.2",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4208,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355123.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006277.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4208A>G",
"hgvs_p": "p.Asp1403Gly",
"transcript": "ENST00000355123.9",
"protein_id": "ENSP00000347244.4",
"transcript_support_level": 1,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4208,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006277.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355123.9"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4127A>G",
"hgvs_p": "p.Asp1376Gly",
"transcript": "ENST00000361999.7",
"protein_id": "ENSP00000354561.2",
"transcript_support_level": 1,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4127,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361999.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4169A>G",
"hgvs_p": "p.Asp1390Gly",
"transcript": "ENST00000905943.1",
"protein_id": "ENSP00000576002.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4169,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905943.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4166A>G",
"hgvs_p": "p.Asp1389Gly",
"transcript": "NM_001348181.2",
"protein_id": "NP_001335110.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4166,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348181.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4127A>G",
"hgvs_p": "p.Asp1376Gly",
"transcript": "NM_019595.4",
"protein_id": "NP_062541.3",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4127,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019595.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4094A>G",
"hgvs_p": "p.Asp1365Gly",
"transcript": "ENST00000926830.1",
"protein_id": "ENSP00000596889.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1659,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926830.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4088A>G",
"hgvs_p": "p.Asp1363Gly",
"transcript": "NM_001348182.2",
"protein_id": "NP_001335111.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4088,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348182.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4088A>G",
"hgvs_p": "p.Asp1363Gly",
"transcript": "ENST00000905942.1",
"protein_id": "ENSP00000576001.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4088,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905942.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4088A>G",
"hgvs_p": "p.Asp1363Gly",
"transcript": "ENST00000926831.1",
"protein_id": "ENSP00000596890.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4088,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926831.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4208A>G",
"hgvs_p": "p.Asp1403Gly",
"transcript": "XM_024452930.2",
"protein_id": "XP_024308698.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4208,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452930.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4208A>G",
"hgvs_p": "p.Asp1403Gly",
"transcript": "XM_024452931.2",
"protein_id": "XP_024308699.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4208,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452931.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4208A>G",
"hgvs_p": "p.Asp1403Gly",
"transcript": "XM_047444582.1",
"protein_id": "XP_047300538.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4208,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444582.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4169A>G",
"hgvs_p": "p.Asp1390Gly",
"transcript": "XM_024452933.2",
"protein_id": "XP_024308701.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4169,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452933.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4166A>G",
"hgvs_p": "p.Asp1389Gly",
"transcript": "XM_024452932.2",
"protein_id": "XP_024308700.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4166,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452932.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4166A>G",
"hgvs_p": "p.Asp1389Gly",
"transcript": "XM_047444584.1",
"protein_id": "XP_047300540.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4166,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444584.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4166A>G",
"hgvs_p": "p.Asp1389Gly",
"transcript": "XM_047444585.1",
"protein_id": "XP_047300541.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4166,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444585.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4127A>G",
"hgvs_p": "p.Asp1376Gly",
"transcript": "XM_024452934.2",
"protein_id": "XP_024308702.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4127,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452934.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4127A>G",
"hgvs_p": "p.Asp1376Gly",
"transcript": "XM_047444583.1",
"protein_id": "XP_047300539.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4127,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444583.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4127A>G",
"hgvs_p": "p.Asp1376Gly",
"transcript": "XM_047444586.1",
"protein_id": "XP_047300542.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4127,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444586.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.4208A>G",
"hgvs_p": "p.Asp1403Gly",
"transcript": "XM_047444587.1",
"protein_id": "XP_047300543.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1568,
"cds_start": 4208,
"cds_end": null,
"cds_length": 4707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444587.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Asp635Gly",
"transcript": "XM_024452937.2",
"protein_id": "XP_024308705.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 929,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452937.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000242628",
"gene_hgnc_id": null,
"hgvs_c": "n.180T>C",
"hgvs_p": null,
"transcript": "ENST00000662667.1",
"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": "ENST00000662667.1"
}
],
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"dbsnp": "rs1553340826",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8329678773880005,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.278,
"revel_prediction": "Benign",
"alphamissense_score": 0.8368,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.67,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006277.3",
"gene_symbol": "ITSN2",
"hgnc_id": 6184,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4208A>G",
"hgvs_p": "p.Asp1403Gly"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000662667.1",
"gene_symbol": "ENSG00000242628",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.180T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Landau-Kleffner syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Landau-Kleffner syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}