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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: 3-149163886-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=149163886&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 149163886,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_032383.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.His842His",
"transcript": "NM_032383.5",
"protein_id": "NP_115759.2",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296051.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032383.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.His842His",
"transcript": "ENST00000296051.7",
"protein_id": "ENSP00000296051.2",
"transcript_support_level": 1,
"aa_start": 842,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032383.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296051.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2511C>T",
"hgvs_p": "p.His837His",
"transcript": "ENST00000870872.1",
"protein_id": "ENSP00000540931.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 999,
"cds_start": 2511,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870872.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.His842His",
"transcript": "ENST00000870871.1",
"protein_id": "ENSP00000540930.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 986,
"cds_start": 2526,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870871.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2400C>T",
"hgvs_p": "p.His800His",
"transcript": "ENST00000960205.1",
"protein_id": "ENSP00000630264.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 962,
"cds_start": 2400,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960205.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.His842His",
"transcript": "ENST00000870869.1",
"protein_id": "ENSP00000540928.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 935,
"cds_start": 2526,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870869.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2292C>T",
"hgvs_p": "p.His764His",
"transcript": "ENST00000870868.1",
"protein_id": "ENSP00000540927.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 926,
"cds_start": 2292,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870868.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2277C>T",
"hgvs_p": "p.His759His",
"transcript": "ENST00000940665.1",
"protein_id": "ENSP00000610724.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 921,
"cds_start": 2277,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940665.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2136C>T",
"hgvs_p": "p.His712His",
"transcript": "ENST00000870870.1",
"protein_id": "ENSP00000540929.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 874,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870870.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2031C>T",
"hgvs_p": "p.His677His",
"transcript": "NM_001308258.2",
"protein_id": "NP_001295187.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 839,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308258.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2031C>T",
"hgvs_p": "p.His677His",
"transcript": "ENST00000460120.5",
"protein_id": "ENSP00000418230.1",
"transcript_support_level": 2,
"aa_start": 677,
"aa_end": null,
"aa_length": 839,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460120.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.His643His",
"transcript": "ENST00000940666.1",
"protein_id": "ENSP00000610725.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 805,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940666.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2031C>T",
"hgvs_p": "p.His677His",
"transcript": "ENST00000960204.1",
"protein_id": "ENSP00000630263.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 770,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960204.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.1797C>T",
"hgvs_p": "p.His599His",
"transcript": "ENST00000940664.1",
"protein_id": "ENSP00000610723.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 761,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940664.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.His591His",
"transcript": "ENST00000940667.1",
"protein_id": "ENSP00000610726.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 753,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940667.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.His842His",
"transcript": "XM_047449064.1",
"protein_id": "XP_047305020.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 942,
"cds_start": 2526,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CP",
"gene_hgnc_id": 2295,
"hgvs_c": "c.*14-1011G>A",
"hgvs_p": null,
"transcript": "ENST00000479771.5",
"protein_id": "ENSP00000420367.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479771.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CP",
"gene_hgnc_id": 2295,
"hgvs_c": "c.*14-1011G>A",
"hgvs_p": null,
"transcript": "XM_011512435.3",
"protein_id": "XP_011510737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": null,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512435.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CP",
"gene_hgnc_id": 2295,
"hgvs_c": "c.*14-1011G>A",
"hgvs_p": null,
"transcript": "XM_006713499.4",
"protein_id": "XP_006713562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1090,
"cds_start": null,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713499.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "n.654C>T",
"hgvs_p": null,
"transcript": "ENST00000460822.1",
"protein_id": "ENSP00000419824.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000460822.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"hgvs_c": "n.2612C>T",
"hgvs_p": null,
"transcript": "XR_001740328.3",
"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_001740328.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CP",
"gene_hgnc_id": 2295,
"hgvs_c": "n.*70-1011G>A",
"hgvs_p": null,
"transcript": "ENST00000481169.5",
"protein_id": "ENSP00000418773.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000481169.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CP",
"gene_hgnc_id": 2295,
"hgvs_c": "n.2948-1011G>A",
"hgvs_p": null,
"transcript": "NR_046371.2",
"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": "NR_046371.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CP",
"gene_hgnc_id": 2295,
"hgvs_c": "n.3161-1011G>A",
"hgvs_p": null,
"transcript": "XR_427361.4",
"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_427361.4"
}
],
"gene_symbol": "HPS3",
"gene_hgnc_id": 15597,
"dbsnp": "rs3732557",
"frequency_reference_population": 0.18604177,
"hom_count_reference_population": 29903,
"allele_count_reference_population": 291587,
"gnomad_exomes_af": 0.1889,
"gnomad_genomes_af": 0.159454,
"gnomad_exomes_ac": 267329,
"gnomad_genomes_ac": 24258,
"gnomad_exomes_homalt": 27392,
"gnomad_genomes_homalt": 2511,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.484,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032383.5",
"gene_symbol": "HPS3",
"hgnc_id": 15597,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.His842His"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000481169.5",
"gene_symbol": "CP",
"hgnc_id": 2295,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "n.*70-1011G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Hermansky-Pudlak syndrome,Hermansky-Pudlak syndrome 3,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Hermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}