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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: 11-74095303-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=74095303&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 74095303,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000334126.12",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "NM_001286577.2",
"protein_id": "NP_001273506.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 2353,
"cds_start": 3085,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 7939,
"mane_select": "ENST00000334126.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "ENST00000334126.12",
"protein_id": "ENSP00000334379.7",
"transcript_support_level": 5,
"aa_start": 1029,
"aa_end": null,
"aa_length": 2353,
"cds_start": 3085,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 7939,
"mane_select": "NM_001286577.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "ENST00000414160.7",
"protein_id": "ENSP00000388750.3",
"transcript_support_level": 1,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1968,
"cds_start": 3085,
"cds_end": null,
"cds_length": 5907,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "ENST00000313663.11",
"protein_id": "ENSP00000323339.7",
"transcript_support_level": 1,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1963,
"cds_start": 3085,
"cds_end": null,
"cds_length": 5892,
"cdna_start": 3312,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "ENST00000680231.1",
"protein_id": "ENSP00000505413.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 2308,
"cds_start": 3085,
"cds_end": null,
"cds_length": 6927,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 6977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "ENST00000679906.1",
"protein_id": "ENSP00000505021.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 2301,
"cds_start": 3085,
"cds_end": null,
"cds_length": 6906,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "ENST00000681143.1",
"protein_id": "ENSP00000505970.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 2218,
"cds_start": 3085,
"cds_end": null,
"cds_length": 6657,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "NM_015531.6",
"protein_id": "NP_056346.3",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1963,
"cds_start": 3085,
"cds_end": null,
"cds_length": 5892,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "ENST00000681310.1",
"protein_id": "ENSP00000506236.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3085,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.3085T>A",
"hgvs_p": "p.Cys1029Ser",
"transcript": "ENST00000538361.2",
"protein_id": "ENSP00000441742.2",
"transcript_support_level": 3,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1937,
"cds_start": 3085,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 3085,
"cdna_end": null,
"cdna_length": 6163,
"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": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.3085T>A",
"hgvs_p": null,
"transcript": "ENST00000442398.7",
"protein_id": "ENSP00000404577.3",
"transcript_support_level": 2,
"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": 7683,
"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": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*2533T>A",
"hgvs_p": null,
"transcript": "ENST00000679415.1",
"protein_id": "ENSP00000505672.1",
"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": 7670,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.2661T>A",
"hgvs_p": null,
"transcript": "ENST00000680306.1",
"protein_id": null,
"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": 3189,
"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": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.3085T>A",
"hgvs_p": null,
"transcript": "ENST00000680665.1",
"protein_id": "ENSP00000505527.1",
"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": 7977,
"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": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*2042T>A",
"hgvs_p": null,
"transcript": "ENST00000680839.1",
"protein_id": "ENSP00000506002.1",
"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": 7289,
"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": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*2537T>A",
"hgvs_p": null,
"transcript": "ENST00000681291.1",
"protein_id": "ENSP00000505182.1",
"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": 7767,
"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": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*2537T>A",
"hgvs_p": null,
"transcript": "ENST00000681385.1",
"protein_id": "ENSP00000505069.1",
"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": 7361,
"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": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*1653T>A",
"hgvs_p": null,
"transcript": "ENST00000681609.1",
"protein_id": "ENSP00000505133.1",
"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": 7777,
"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": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.3085T>A",
"hgvs_p": null,
"transcript": "ENST00000681811.1",
"protein_id": "ENSP00000506315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 7614,
"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": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.3085T>A",
"hgvs_p": null,
"transcript": "ENST00000681829.1",
"protein_id": "ENSP00000505375.1",
"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": 7206,
"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": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.3085T>A",
"hgvs_p": null,
"transcript": "ENST00000681924.1",
"protein_id": "ENSP00000505101.1",
"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": 7808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*2533T>A",
"hgvs_p": null,
"transcript": "ENST00000679415.1",
"protein_id": "ENSP00000505672.1",
"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": 7670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*2042T>A",
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"transcript": "ENST00000680839.1",
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000334126.12",
"gene_symbol": "C2CD3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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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
}