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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: 3-53292080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53292080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53292080,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018403.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "NM_018403.7",
"protein_id": "NP_060873.4",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 582,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610213.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018403.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "ENST00000610213.6",
"protein_id": "ENSP00000476386.1",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 582,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018403.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610213.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Ala472Thr",
"transcript": "ENST00000863998.1",
"protein_id": "ENSP00000534057.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 596,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863998.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000918281.1",
"protein_id": "ENSP00000588340.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 581,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918281.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Ala456Thr",
"transcript": "ENST00000863996.1",
"protein_id": "ENSP00000534055.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 580,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863996.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "ENST00000956912.1",
"protein_id": "ENSP00000626971.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 579,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956912.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "ENST00000863995.1",
"protein_id": "ENSP00000534054.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 567,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863995.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "ENST00000863999.1",
"protein_id": "ENSP00000534058.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 560,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863999.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "NM_001290204.2",
"protein_id": "NP_001277133.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 544,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290204.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000294241.10",
"protein_id": "ENSP00000476046.2",
"transcript_support_level": 2,
"aa_start": 420,
"aa_end": null,
"aa_length": 544,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294241.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Ala407Thr",
"transcript": "ENST00000864000.1",
"protein_id": "ENSP00000534059.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 531,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864000.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000918279.1",
"protein_id": "ENSP00000588338.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 529,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918279.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1258G>A",
"hgvs_p": "p.Ala420Thr",
"transcript": "ENST00000863997.1",
"protein_id": "ENSP00000534056.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 522,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863997.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1177G>A",
"hgvs_p": "p.Ala393Thr",
"transcript": "ENST00000956913.1",
"protein_id": "ENSP00000626972.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 517,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956913.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Ala386Thr",
"transcript": "NM_001290205.2",
"protein_id": "NP_001277134.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 510,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290205.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr",
"transcript": "ENST00000918280.1",
"protein_id": "ENSP00000588339.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 509,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918280.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Ala355Thr",
"transcript": "ENST00000918278.1",
"protein_id": "ENSP00000588337.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 479,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918278.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "NM_001290206.2",
"protein_id": "NP_001277135.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 461,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290206.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Ala299Thr",
"transcript": "NM_001290207.2",
"protein_id": "NP_001277136.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 423,
"cds_start": 895,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290207.2"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302984",
"gene_hgnc_id": null,
"hgvs_c": "n.279-819C>T",
"hgvs_p": null,
"transcript": "ENST00000790869.1",
"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": "ENST00000790869.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302984",
"gene_hgnc_id": null,
"hgvs_c": "n.202-819C>T",
"hgvs_p": null,
"transcript": "ENST00000790870.1",
"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": "ENST00000790870.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302984",
"gene_hgnc_id": null,
"hgvs_c": "n.159-819C>T",
"hgvs_p": null,
"transcript": "ENST00000790871.1",
"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": "ENST00000790871.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107986087",
"gene_hgnc_id": null,
"hgvs_c": "n.208-819C>T",
"hgvs_p": null,
"transcript": "XR_001740702.3",
"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": "XR_001740702.3"
}
],
"gene_symbol": "DCP1A",
"gene_hgnc_id": 18714,
"dbsnp": "rs1214169078",
"frequency_reference_population": 0.0000031049344,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205699,
"gnomad_genomes_af": 0.0000131666,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08149808645248413,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.073,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.035,
"phylop100way_prediction": "Benign",
"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": 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_018403.7",
"gene_symbol": "DCP1A",
"hgnc_id": 18714,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Ala458Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000790869.1",
"gene_symbol": "ENSG00000302984",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.279-819C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001740702.3",
"gene_symbol": "LOC107986087",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208-819C>T",
"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
}