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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: 19-1036202-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1036202&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1036202,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001303501.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "NM_004368.4",
"protein_id": "NP_004359.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 309,
"cds_start": 463,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263097.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004368.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "ENST00000263097.9",
"protein_id": "ENSP00000263097.2",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 309,
"cds_start": 463,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004368.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263097.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.34-214G>A",
"hgvs_p": null,
"transcript": "ENST00000607102.1",
"protein_id": "ENSP00000475175.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607102.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Asp176Asn",
"transcript": "NM_001303501.2",
"protein_id": "NP_001290430.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 330,
"cds_start": 526,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303501.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Asp176Asn",
"transcript": "ENST00000562958.6",
"protein_id": "ENSP00000456436.1",
"transcript_support_level": 2,
"aa_start": 176,
"aa_end": null,
"aa_length": 330,
"cds_start": 526,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562958.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Asp153Asn",
"transcript": "ENST00000926772.1",
"protein_id": "ENSP00000596831.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 307,
"cds_start": 457,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926772.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Asp148Asn",
"transcript": "ENST00000926776.1",
"protein_id": "ENSP00000596835.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 302,
"cds_start": 442,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926776.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Asp144Asn",
"transcript": "NM_001303499.2",
"protein_id": "NP_001290428.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 298,
"cds_start": 430,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303499.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Asp144Asn",
"transcript": "ENST00000565096.6",
"protein_id": "ENSP00000457968.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 298,
"cds_start": 430,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565096.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Asp120Asn",
"transcript": "ENST00000926779.1",
"protein_id": "ENSP00000596838.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 274,
"cds_start": 358,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926779.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "ENST00000926777.1",
"protein_id": "ENSP00000596836.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 269,
"cds_start": 463,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926777.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Asp109Asn",
"transcript": "ENST00000865315.1",
"protein_id": "ENSP00000535374.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 263,
"cds_start": 325,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865315.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "ENST00000568865.3",
"protein_id": "ENSP00000458137.2",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 261,
"cds_start": 463,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568865.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Asp92Asn",
"transcript": "ENST00000566695.6",
"protein_id": "ENSP00000484533.2",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 246,
"cds_start": 274,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566695.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Asp46Asn",
"transcript": "ENST00000926773.1",
"protein_id": "ENSP00000596832.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 200,
"cds_start": 136,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926773.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Asp146Asn",
"transcript": "ENST00000606983.5",
"protein_id": "ENSP00000484749.1",
"transcript_support_level": 3,
"aa_start": 146,
"aa_end": null,
"aa_length": 178,
"cds_start": 436,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606983.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.391-214G>A",
"hgvs_p": null,
"transcript": "NM_201277.3",
"protein_id": "NP_958434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201277.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.391-214G>A",
"hgvs_p": null,
"transcript": "ENST00000348419.7",
"protein_id": "ENSP00000340129.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348419.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.364-214G>A",
"hgvs_p": null,
"transcript": "ENST00000926774.1",
"protein_id": "ENSP00000596833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926774.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.358-214G>A",
"hgvs_p": null,
"transcript": "ENST00000926775.1",
"protein_id": "ENSP00000596834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.253-214G>A",
"hgvs_p": null,
"transcript": "ENST00000926778.1",
"protein_id": "ENSP00000596837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "c.391-1423G>A",
"hgvs_p": null,
"transcript": "ENST00000865316.1",
"protein_id": "ENSP00000535375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865316.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "n.362-214G>A",
"hgvs_p": null,
"transcript": "ENST00000562075.7",
"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": "retained_intron",
"feature": "ENST00000562075.7"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"hgvs_c": "n.*169-1348G>A",
"hgvs_p": null,
"transcript": "ENST00000569352.6",
"protein_id": "ENSP00000468577.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000569352.6"
}
],
"gene_symbol": "CNN2",
"gene_hgnc_id": 2156,
"dbsnp": "rs369249569",
"frequency_reference_population": 0.00007126632,
"hom_count_reference_population": 2,
"allele_count_reference_population": 111,
"gnomad_exomes_af": 0.0000632597,
"gnomad_genomes_af": 0.000146044,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06736403703689575,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.196,
"revel_prediction": "Benign",
"alphamissense_score": 0.1058,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.744,
"phylop100way_prediction": "Pathogenic",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 8,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001303501.2",
"gene_symbol": "CNN2",
"hgnc_id": 2156,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Asp176Asn"
}
],
"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
}