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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: 1-22660245-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=22660245&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 22660245,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_000491.5",
"consequences": [
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "NM_001378156.1",
"protein_id": "NP_001365085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000509305.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378156.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000509305.6",
"protein_id": "ENSP00000423689.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378156.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509305.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Val72Val",
"transcript": "ENST00000695763.1",
"protein_id": "ENSP00000512156.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 143,
"cds_start": 216,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695763.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-489C>T",
"hgvs_p": null,
"transcript": "ENST00000695760.1",
"protein_id": "ENSP00000512153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695760.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.188-567C>T",
"hgvs_p": null,
"transcript": "NM_000491.5",
"protein_id": "NP_000482.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000491.5"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "NM_001371184.3",
"protein_id": "NP_001358113.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371184.3"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000695754.1",
"protein_id": "ENSP00000512147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695754.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000695755.1",
"protein_id": "ENSP00000512148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695755.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000695756.1",
"protein_id": "ENSP00000512149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695756.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000695757.1",
"protein_id": "ENSP00000512150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695757.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000897310.1",
"protein_id": "ENSP00000567369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897310.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000897312.1",
"protein_id": "ENSP00000567371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897312.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000897313.1",
"protein_id": "ENSP00000567372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897313.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000897314.1",
"protein_id": "ENSP00000567373.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897314.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000952201.1",
"protein_id": "ENSP00000622260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952201.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-576C>T",
"hgvs_p": null,
"transcript": "ENST00000695762.1",
"protein_id": "ENSP00000512155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000695762.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-576C>T",
"hgvs_p": null,
"transcript": "ENST00000952203.1",
"protein_id": "ENSP00000622262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
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"cds_length": 747,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952203.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.119-567C>T",
"hgvs_p": null,
"transcript": "ENST00000897311.1",
"protein_id": "ENSP00000567370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
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"cds_length": 693,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897311.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.119-567C>T",
"hgvs_p": null,
"transcript": "ENST00000952202.1",
"protein_id": "ENSP00000622261.1",
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"biotype": "protein_coding",
"feature": "ENST00000952202.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-567C>T",
"hgvs_p": null,
"transcript": "ENST00000432749.6",
"protein_id": "ENSP00000404606.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000432749.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-460C>T",
"hgvs_p": null,
"transcript": "ENST00000695759.1",
"protein_id": "ENSP00000512152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
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"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695759.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C1QB",
"gene_hgnc_id": 1242,
"hgvs_c": "c.182-502C>T",
"hgvs_p": null,
"transcript": "ENST00000695761.1",
"protein_id": "ENSP00000512154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695761.1"
},
{
"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": 3,
"intron_rank": 2,
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{
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{
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],
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"gnomad_genomes_ac": 36201,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.078,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
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"verdict": "Benign",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000836788.1",
"gene_symbol": "ENSG00000308848",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}