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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: 12-121854703-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121854703&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121854703,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_002150.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "NM_002150.3",
"protein_id": "NP_002141.2",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 393,
"cds_start": 414,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000289004.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002150.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000289004.8",
"protein_id": "ENSP00000289004.4",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 393,
"cds_start": 414,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002150.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289004.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868949.1",
"protein_id": "ENSP00000539008.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 440,
"cds_start": 414,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868949.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868952.1",
"protein_id": "ENSP00000539011.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 410,
"cds_start": 414,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868952.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.456G>A",
"hgvs_p": "p.Thr152Thr",
"transcript": "ENST00000868956.1",
"protein_id": "ENSP00000539015.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 407,
"cds_start": 456,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868956.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868945.1",
"protein_id": "ENSP00000539004.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 392,
"cds_start": 414,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868945.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.408G>A",
"hgvs_p": "p.Thr136Thr",
"transcript": "ENST00000868959.1",
"protein_id": "ENSP00000539018.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 391,
"cds_start": 408,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868959.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868958.1",
"protein_id": "ENSP00000539017.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 389,
"cds_start": 414,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868958.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868944.1",
"protein_id": "ENSP00000539003.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 384,
"cds_start": 414,
"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": "ENST00000868944.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868954.1",
"protein_id": "ENSP00000539013.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 383,
"cds_start": 414,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868954.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868953.1",
"protein_id": "ENSP00000539012.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 377,
"cds_start": 414,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868953.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.309G>A",
"hgvs_p": "p.Thr103Thr",
"transcript": "ENST00000868946.1",
"protein_id": "ENSP00000539005.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 358,
"cds_start": 309,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868946.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.297G>A",
"hgvs_p": "p.Thr99Thr",
"transcript": "NM_001171993.2",
"protein_id": "NP_001165464.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 354,
"cds_start": 297,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171993.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.297G>A",
"hgvs_p": "p.Thr99Thr",
"transcript": "ENST00000543163.5",
"protein_id": "ENSP00000441677.1",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 354,
"cds_start": 297,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543163.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868950.1",
"protein_id": "ENSP00000539009.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 354,
"cds_start": 414,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868950.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868948.1",
"protein_id": "ENSP00000539007.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 352,
"cds_start": 414,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868948.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.309G>A",
"hgvs_p": "p.Thr103Thr",
"transcript": "ENST00000868962.1",
"protein_id": "ENSP00000539021.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 349,
"cds_start": 309,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868962.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.120G>A",
"hgvs_p": "p.Thr40Thr",
"transcript": "ENST00000868955.1",
"protein_id": "ENSP00000539014.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 295,
"cds_start": 120,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868955.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868951.1",
"protein_id": "ENSP00000539010.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 254,
"cds_start": 414,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868951.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr",
"transcript": "ENST00000868961.1",
"protein_id": "ENSP00000539020.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 213,
"cds_start": 414,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868961.1"
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.324+1621G>A",
"hgvs_p": null,
"transcript": "ENST00000868947.1",
"protein_id": "ENSP00000539006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868947.1"
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.324+1621G>A",
"hgvs_p": null,
"transcript": "ENST00000868960.1",
"protein_id": "ENSP00000539019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868960.1"
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "c.198+2625G>A",
"hgvs_p": null,
"transcript": "ENST00000868957.1",
"protein_id": "ENSP00000539016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"hgvs_c": "n.450G>A",
"hgvs_p": null,
"transcript": "ENST00000542159.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000542159.2"
}
],
"gene_symbol": "HPD",
"gene_hgnc_id": 5147,
"dbsnp": "rs140788110",
"frequency_reference_population": 0.003136974,
"hom_count_reference_population": 227,
"allele_count_reference_population": 5053,
"gnomad_exomes_af": 0.00293584,
"gnomad_genomes_af": 0.00506364,
"gnomad_exomes_ac": 4282,
"gnomad_genomes_ac": 771,
"gnomad_exomes_homalt": 202,
"gnomad_genomes_homalt": 25,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.1899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9539999961853027,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.779,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.997423526143546,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002150.3",
"gene_symbol": "HPD",
"hgnc_id": 5147,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.414G>A",
"hgvs_p": "p.Thr138Thr"
}
],
"clinvar_disease": "Hawkinsinuria,Tyrosinemia type III,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:5",
"phenotype_combined": "Hawkinsinuria|Tyrosinemia type III|Hawkinsinuria;Tyrosinemia type III|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}