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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: 12-103943308-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=103943308&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 103943308,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003299.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe",
"transcript": "NM_003299.3",
"protein_id": "NP_003290.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 803,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299767.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003299.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe",
"transcript": "ENST00000299767.10",
"protein_id": "ENSP00000299767.4",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 803,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003299.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299767.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe",
"transcript": "ENST00000614327.2",
"protein_id": "ENSP00000477660.2",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 751,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614327.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe",
"transcript": "ENST00000681861.1",
"protein_id": "ENSP00000506419.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 814,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681861.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe",
"transcript": "ENST00000681949.1",
"protein_id": "ENSP00000504951.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 813,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681949.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe",
"transcript": "ENST00000863861.1",
"protein_id": "ENSP00000533920.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 800,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863861.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Leu624Phe",
"transcript": "ENST00000925364.1",
"protein_id": "ENSP00000595423.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 800,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925364.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe",
"transcript": "ENST00000550595.2",
"protein_id": "ENSP00000450215.2",
"transcript_support_level": 2,
"aa_start": 627,
"aa_end": null,
"aa_length": 796,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550595.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe",
"transcript": "ENST00000680762.1",
"protein_id": "ENSP00000506150.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 789,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680762.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1813C>T",
"hgvs_p": "p.Leu605Phe",
"transcript": "ENST00000863864.1",
"protein_id": "ENSP00000533923.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 781,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863864.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1783C>T",
"hgvs_p": "p.Leu595Phe",
"transcript": "ENST00000863860.1",
"protein_id": "ENSP00000533919.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 771,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863860.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1762C>T",
"hgvs_p": "p.Leu588Phe",
"transcript": "ENST00000925363.1",
"protein_id": "ENSP00000595422.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 764,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925363.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1762C>T",
"hgvs_p": "p.Leu588Phe",
"transcript": "ENST00000925365.1",
"protein_id": "ENSP00000595424.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 764,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925365.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1759C>T",
"hgvs_p": "p.Leu587Phe",
"transcript": "ENST00000863862.1",
"protein_id": "ENSP00000533921.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 763,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863862.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Leu543Phe",
"transcript": "ENST00000679861.1",
"protein_id": "ENSP00000505440.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 719,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679861.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Leu543Phe",
"transcript": "ENST00000680316.1",
"protein_id": "ENSP00000505046.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 719,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680316.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.1092+3683C>T",
"hgvs_p": null,
"transcript": "ENST00000925366.1",
"protein_id": "ENSP00000595425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925366.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.153-3585C>T",
"hgvs_p": null,
"transcript": "ENST00000863863.1",
"protein_id": "ENSP00000533922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863863.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "c.79-4003C>T",
"hgvs_p": null,
"transcript": "ENST00000949724.1",
"protein_id": "ENSP00000619783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "n.2234C>T",
"hgvs_p": null,
"transcript": "ENST00000548462.5",
"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": "ENST00000548462.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "n.569C>T",
"hgvs_p": null,
"transcript": "ENST00000551983.1",
"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": "ENST00000551983.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "n.1279C>T",
"hgvs_p": null,
"transcript": "ENST00000552051.2",
"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,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681174.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "n.*1182C>T",
"hgvs_p": null,
"transcript": "ENST00000681698.1",
"protein_id": "ENSP00000504931.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"hgvs_c": "n.*1695C>T",
"hgvs_p": null,
"transcript": "ENST00000681941.1",
"protein_id": "ENSP00000505039.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681941.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UQCC6",
"gene_hgnc_id": 34450,
"hgvs_c": "n.399-1215G>A",
"hgvs_p": null,
"transcript": "ENST00000651157.1",
"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": "pseudogene",
"feature": "ENST00000651157.1"
}
],
"gene_symbol": "HSP90B1",
"gene_hgnc_id": 12028,
"dbsnp": "rs747385288",
"frequency_reference_population": 6.8414147e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84141e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8845305442810059,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.541,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8592,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.896,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003299.3",
"gene_symbol": "HSP90B1",
"hgnc_id": 12028,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1879C>T",
"hgvs_p": "p.Leu627Phe"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000651157.1",
"gene_symbol": "UQCC6",
"hgnc_id": 34450,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.399-1215G>A",
"hgvs_p": null
}
],
"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
}