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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: 8-38238145-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38238145&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38238145,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000397166.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "NM_015214.3",
"protein_id": "NP_056029.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": "ENST00000397166.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "ENST00000397166.7",
"protein_id": "ENSP00000380352.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": "NM_015214.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "NM_001164232.2",
"protein_id": "NP_001157704.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "NM_001362911.2",
"protein_id": "NP_001349840.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "NM_001362912.2",
"protein_id": "NP_001349841.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "NM_001362914.2",
"protein_id": "NP_001349843.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "ENST00000520272.6",
"protein_id": "ENSP00000429932.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "NM_001362913.2",
"protein_id": "NP_001349842.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 681,
"cds_start": 558,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "NM_001164234.2",
"protein_id": "NP_001157706.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 227,
"cds_start": 558,
"cds_end": null,
"cds_length": 684,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "ENST00000532222.5",
"protein_id": "ENSP00000433578.1",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 221,
"cds_start": 558,
"cds_end": null,
"cds_length": 667,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "XM_011544456.3",
"protein_id": "XP_011542758.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 8480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "XM_047421614.1",
"protein_id": "XP_047277570.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 711,
"cds_start": 558,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "XM_047421615.1",
"protein_id": "XP_047277571.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 681,
"cds_start": 558,
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"cds_length": 2046,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "XM_047421616.1",
"protein_id": "XP_047277572.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr",
"transcript": "XM_047421617.1",
"protein_id": "XP_047277573.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 681,
"cds_start": 558,
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"cdna_start": 841,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.755G>A",
"hgvs_p": null,
"transcript": "ENST00000519857.5",
"protein_id": null,
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.*115G>A",
"hgvs_p": null,
"transcript": "ENST00000526237.5",
"protein_id": "ENSP00000436994.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 697,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.841G>A",
"hgvs_p": null,
"transcript": "NR_156416.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.841G>A",
"hgvs_p": null,
"transcript": "NR_156417.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.841G>A",
"hgvs_p": null,
"transcript": "XR_001745504.3",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
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"hgvs_c": "n.841G>A",
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"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.841G>A",
"hgvs_p": null,
"transcript": "XR_007060724.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.841G>A",
"hgvs_p": null,
"transcript": "XR_007060725.1",
"protein_id": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2840,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.841G>A",
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"transcript": "XR_007060726.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2850,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.*115G>A",
"hgvs_p": null,
"transcript": "ENST00000526237.5",
"protein_id": "ENSP00000436994.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.411+518G>A",
"hgvs_p": null,
"transcript": "ENST00000527415.5",
"protein_id": "ENSP00000432024.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"dbsnp": "rs149994413",
"frequency_reference_population": 0.00022926486,
"hom_count_reference_population": 1,
"allele_count_reference_population": 370,
"gnomad_exomes_af": 0.000224407,
"gnomad_genomes_af": 0.000275913,
"gnomad_exomes_ac": 328,
"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.5600000023841858,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.269,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.56,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000397166.7",
"gene_symbol": "DDHD2",
"hgnc_id": 29106,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Thr186Thr"
}
],
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 54,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Hereditary spastic paraplegia 54|Hereditary spastic paraplegia|not provided|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}