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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: 19-14397675-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14397675&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14397675,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_078481.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.643T>A",
"hgvs_p": "p.Ser215Thr",
"transcript": "NM_078481.4",
"protein_id": "NP_510966.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 835,
"cds_start": 643,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242786.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_078481.4"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.643T>A",
"hgvs_p": "p.Ser215Thr",
"transcript": "ENST00000242786.6",
"protein_id": "ENSP00000242786.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 835,
"cds_start": 643,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_078481.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242786.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.496T>A",
"hgvs_p": "p.Ser166Thr",
"transcript": "ENST00000357355.7",
"protein_id": "ENSP00000349918.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 786,
"cds_start": 496,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357355.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "ENST00000358600.7",
"protein_id": "ENSP00000351413.2",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 742,
"cds_start": 364,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358600.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.643T>A",
"hgvs_p": "p.Ser215Thr",
"transcript": "ENST00000952181.1",
"protein_id": "ENSP00000622240.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 835,
"cds_start": 643,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952181.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.496T>A",
"hgvs_p": "p.Ser166Thr",
"transcript": "ENST00000952182.1",
"protein_id": "ENSP00000622241.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 806,
"cds_start": 496,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952182.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.496T>A",
"hgvs_p": "p.Ser166Thr",
"transcript": "NM_001025160.3",
"protein_id": "NP_001020331.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 786,
"cds_start": 496,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025160.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "ENST00000952183.1",
"protein_id": "ENSP00000622242.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 750,
"cds_start": 364,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952183.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "NM_001784.6",
"protein_id": "NP_001775.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 742,
"cds_start": 364,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001784.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "ENST00000877688.1",
"protein_id": "ENSP00000547747.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 742,
"cds_start": 364,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877688.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "ENST00000877689.1",
"protein_id": "ENSP00000547748.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 742,
"cds_start": 364,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877689.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "ENST00000952179.1",
"protein_id": "ENSP00000622238.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 742,
"cds_start": 364,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952179.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "ENST00000922282.1",
"protein_id": "ENSP00000592341.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 708,
"cds_start": 364,
"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": "ENST00000922282.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.643T>A",
"hgvs_p": "p.Ser215Thr",
"transcript": "ENST00000952184.1",
"protein_id": "ENSP00000622243.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 586,
"cds_start": 643,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952184.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "ENST00000877690.1",
"protein_id": "ENSP00000547749.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 558,
"cds_start": 364,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877690.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.364T>A",
"hgvs_p": "p.Ser122Thr",
"transcript": "ENST00000952180.1",
"protein_id": "ENSP00000622239.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 558,
"cds_start": 364,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952180.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "c.313T>A",
"hgvs_p": "p.Ser105Thr",
"transcript": "ENST00000586517.5",
"protein_id": "ENSP00000467351.1",
"transcript_support_level": 4,
"aa_start": 105,
"aa_end": null,
"aa_length": 155,
"cds_start": 313,
"cds_end": null,
"cds_length": 470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586517.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "n.196T>A",
"hgvs_p": null,
"transcript": "ENST00000586849.5",
"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": "retained_intron",
"feature": "ENST00000586849.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "n.458T>A",
"hgvs_p": null,
"transcript": "ENST00000587728.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000587728.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "n.389T>A",
"hgvs_p": null,
"transcript": "ENST00000591737.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000591737.1"
},
{
"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": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "n.262T>A",
"hgvs_p": null,
"transcript": "ENST00000593028.1",
"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": "retained_intron",
"feature": "ENST00000593028.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "n.-58T>A",
"hgvs_p": null,
"transcript": "ENST00000587319.5",
"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": "retained_intron",
"feature": "ENST00000587319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "n.-58T>A",
"hgvs_p": null,
"transcript": "ENST00000590567.1",
"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": "retained_intron",
"feature": "ENST00000590567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"hgvs_c": "n.-58T>A",
"hgvs_p": null,
"transcript": "ENST00000592341.1",
"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": "retained_intron",
"feature": "ENST00000592341.1"
}
],
"gene_symbol": "ADGRE5",
"gene_hgnc_id": 1711,
"dbsnp": null,
"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": 0.20155420899391174,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.099,
"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": 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_078481.4",
"gene_symbol": "ADGRE5",
"hgnc_id": 1711,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.643T>A",
"hgvs_p": "p.Ser215Thr"
}
],
"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
}