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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: 5-95543288-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=95543288&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 95543288,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000358746.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "NM_014639.4",
"protein_id": "NP_055454.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1564,
"cds_start": 130,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": "ENST00000358746.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000358746.7",
"protein_id": "ENSP00000351596.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 1564,
"cds_start": 130,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": "NM_014639.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.91-1382G>A",
"hgvs_p": null,
"transcript": "ENST00000514952.5",
"protein_id": "ENSP00000423742.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000698479.1",
"protein_id": "ENSP00000513748.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1578,
"cds_start": 130,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000649566.1",
"protein_id": "ENSP00000497948.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1564,
"cds_start": 130,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000698487.1",
"protein_id": "ENSP00000513753.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1562,
"cds_start": 130,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 6862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Val41Ile",
"transcript": "ENST00000698454.1",
"protein_id": "ENSP00000513736.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 1561,
"cds_start": 121,
"cds_end": null,
"cds_length": 4686,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 7807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000698490.1",
"protein_id": "ENSP00000513755.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1561,
"cds_start": 130,
"cds_end": null,
"cds_length": 4686,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 5672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000698457.1",
"protein_id": "ENSP00000513739.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1494,
"cds_start": 130,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 7627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "ENST00000513823.5",
"protein_id": "ENSP00000425403.1",
"transcript_support_level": 4,
"aa_start": 44,
"aa_end": null,
"aa_length": 94,
"cds_start": 130,
"cds_end": null,
"cds_length": 286,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "XM_047417937.1",
"protein_id": "XP_047273893.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1564,
"cds_start": 130,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 7606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile",
"transcript": "XM_047417938.1",
"protein_id": "XP_047273894.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 941,
"cds_start": 130,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.420G>A",
"hgvs_p": null,
"transcript": "ENST00000506007.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 8070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.130G>A",
"hgvs_p": null,
"transcript": "ENST00000513232.2",
"protein_id": "ENSP00000422749.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.431G>A",
"hgvs_p": null,
"transcript": "ENST00000515207.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.621G>A",
"hgvs_p": null,
"transcript": "ENST00000698452.1",
"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": 8389,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.130G>A",
"hgvs_p": null,
"transcript": "ENST00000698453.1",
"protein_id": "ENSP00000513735.1",
"transcript_support_level": null,
"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": 7964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.*106G>A",
"hgvs_p": null,
"transcript": "ENST00000698455.1",
"protein_id": "ENSP00000513737.1",
"transcript_support_level": null,
"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": 8223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.130G>A",
"hgvs_p": null,
"transcript": "ENST00000698456.1",
"protein_id": "ENSP00000513738.1",
"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,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.130G>A",
"hgvs_p": null,
"transcript": "ENST00000698458.1",
"protein_id": "ENSP00000513740.1",
"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,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.130G>A",
"hgvs_p": null,
"transcript": "ENST00000698459.1",
"protein_id": "ENSP00000513741.1",
"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": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.130G>A",
"hgvs_p": null,
"transcript": "ENST00000698460.1",
"protein_id": "ENSP00000513742.1",
"transcript_support_level": null,
"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": 7655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.420G>A",
"hgvs_p": null,
"transcript": "ENST00000698461.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
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"hgvs_c": "n.420G>A",
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"transcript": "ENST00000698495.1",
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"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": 2027,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
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"hgvs_c": "n.420G>A",
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"transcript": "ENST00000698496.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4459,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SKIC3",
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"hgvs_c": "n.44G>A",
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"transcript": "ENST00000698497.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_length": 2544,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.1181G>A",
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"transcript": "ENST00000698498.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 42,
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"intron_rank_end": null,
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"hgvs_c": "n.*106G>A",
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"transcript": "ENST00000698455.1",
"protein_id": "ENSP00000513737.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 8223,
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"feature": null
}
],
"gene_symbol": "SKIC3",
"gene_hgnc_id": 23639,
"dbsnp": "rs114914951",
"frequency_reference_population": 0.002415812,
"hom_count_reference_population": 73,
"allele_count_reference_population": 3899,
"gnomad_exomes_af": 0.00139215,
"gnomad_genomes_af": 0.0122483,
"gnomad_exomes_ac": 2035,
"gnomad_genomes_ac": 1864,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 39,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006329536437988281,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.171,
"revel_prediction": "Benign",
"alphamissense_score": 0.2902,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.518,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000358746.7",
"gene_symbol": "SKIC3",
"hgnc_id": 23639,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Val44Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}