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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: 14-67823627-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67823627&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67823627,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001321821.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_133510.4",
"protein_id": "NP_598194.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 350,
"cds_start": 84,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000471583.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133510.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "ENST00000471583.6",
"protein_id": "ENSP00000418859.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 350,
"cds_start": 84,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133510.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471583.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "ENST00000487861.5",
"protein_id": "ENSP00000419881.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 425,
"cds_start": 84,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487861.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "ENST00000487270.5",
"protein_id": "ENSP00000419471.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 384,
"cds_start": 84,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487270.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "ENST00000488612.5",
"protein_id": "ENSP00000420061.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 366,
"cds_start": 84,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488612.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "n.84G>A",
"hgvs_p": null,
"transcript": "ENST00000479335.5",
"protein_id": "ENSP00000417408.1",
"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": "ENST00000479335.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.-31G>A",
"hgvs_p": null,
"transcript": "NM_001321815.1",
"protein_id": "NP_001308744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.-372G>A",
"hgvs_p": null,
"transcript": "NM_001321817.2",
"protein_id": "NP_001308746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321817.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_001321821.2",
"protein_id": "NP_001308750.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 425,
"cds_start": 84,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321821.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_133509.5",
"protein_id": "NP_598193.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 384,
"cds_start": 84,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133509.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_001321812.1",
"protein_id": "NP_001308741.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 351,
"cds_start": 84,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321812.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_001321814.2",
"protein_id": "NP_001308743.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 351,
"cds_start": 84,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321814.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_002877.6",
"protein_id": "NP_002868.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 350,
"cds_start": 84,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002877.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "ENST00000460526.6",
"protein_id": "ENSP00000518559.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 350,
"cds_start": 84,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460526.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_001321819.1",
"protein_id": "NP_001308748.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 348,
"cds_start": 84,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321819.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_001321809.2",
"protein_id": "NP_001308738.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 347,
"cds_start": 84,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321809.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_001321810.2",
"protein_id": "NP_001308739.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 347,
"cds_start": 84,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321810.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "NM_001321818.2",
"protein_id": "NP_001308747.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 347,
"cds_start": 84,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321818.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "ENST00000485181.5",
"protein_id": "ENSP00000417948.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 132,
"cds_start": 84,
"cds_end": null,
"cds_length": 400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485181.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln",
"transcript": "ENST00000553334.1",
"protein_id": "ENSP00000452044.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 74,
"cds_start": 84,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.-31G>A",
"hgvs_p": null,
"transcript": "NM_001321815.1",
"protein_id": "NP_001308744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.-372G>A",
"hgvs_p": null,
"transcript": "NM_001321817.2",
"protein_id": "NP_001308746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321817.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "n.128G>A",
"hgvs_p": null,
"transcript": "ENST00000711050.1",
"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": "retained_intron",
"feature": "ENST00000711050.1"
}
],
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"dbsnp": "rs764896402",
"frequency_reference_population": 0.00000961804,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000961804,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.27000001072883606,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9959999918937683,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.267,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.84,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999981948086344,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001321821.2",
"gene_symbol": "RAD51B",
"hgnc_id": 9822,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Gln28Gln"
}
],
"clinvar_disease": "Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:3 US:1",
"phenotype_combined": "Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome|not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}