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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: 11-65182883-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65182883&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65182883,
"ref": "T",
"alt": "TC",
"effect": "frameshift_variant",
"transcript": "NM_005186.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "NM_005186.4",
"protein_id": "NP_005177.2",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000279247.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005186.4"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000279247.11",
"protein_id": "ENSP00000279247.7",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005186.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279247.11"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000524773.5",
"protein_id": "ENSP00000434176.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524773.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000527323.5",
"protein_id": "ENSP00000431984.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527323.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000533820.5",
"protein_id": "ENSP00000435272.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533820.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "NM_001198868.2",
"protein_id": "NP_001185797.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198868.2"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "NM_001198869.2",
"protein_id": "NP_001185798.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198869.2"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000533129.5",
"protein_id": "ENSP00000431686.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533129.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000903824.1",
"protein_id": "ENSP00000573883.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 626,
"cds_start": 189,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903824.1"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000529133.5",
"protein_id": "ENSP00000432512.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 190,
"cds_start": 189,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529133.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000528396.5",
"protein_id": "ENSP00000435847.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 162,
"cds_start": 189,
"cds_end": null,
"cds_length": 490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528396.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000526966.5",
"protein_id": "ENSP00000431528.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 160,
"cds_start": 189,
"cds_end": null,
"cds_length": 485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526966.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000527739.5",
"protein_id": "ENSP00000433823.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 160,
"cds_start": 189,
"cds_end": null,
"cds_length": 485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527739.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000527699.5",
"protein_id": "ENSP00000431172.1",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 151,
"cds_start": 189,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527699.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000533909.5",
"protein_id": "ENSP00000435198.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 147,
"cds_start": 189,
"cds_end": null,
"cds_length": 445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533909.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000534373.5",
"protein_id": "ENSP00000431793.1",
"transcript_support_level": 3,
"aa_start": 63,
"aa_end": null,
"aa_length": 134,
"cds_start": 189,
"cds_end": null,
"cds_length": 407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534373.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "ENST00000531068.5",
"protein_id": "ENSP00000435092.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 121,
"cds_start": 189,
"cds_end": null,
"cds_length": 367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531068.5"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "XM_006718698.3",
"protein_id": "XP_006718761.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718698.3"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs",
"transcript": "XM_011545292.2",
"protein_id": "XP_011543594.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 714,
"cds_start": 189,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545292.2"
},
{
"aa_ref": "P",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Ter63fs",
"transcript": "ENST00000532285.1",
"protein_id": "ENSP00000436693.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 62,
"cds_start": 189,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532285.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.188dupC",
"hgvs_p": null,
"transcript": "ENST00000526954.5",
"protein_id": "ENSP00000436002.1",
"transcript_support_level": 5,
"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": "ENST00000526954.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.272dupC",
"hgvs_p": null,
"transcript": "ENST00000527189.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000527189.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "CAPN1",
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"hgvs_c": "n.269dupC",
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"transcript": "ENST00000527469.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000527469.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.233dupC",
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"transcript": "ENST00000530442.5",
"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": "ENST00000530442.5"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.275dupC",
"hgvs_p": null,
"transcript": "NR_040008.2",
"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": "NR_040008.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"hgvs_c": "n.96-13dupC",
"hgvs_p": null,
"transcript": "ENST00000528739.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000528739.5"
}
],
"gene_symbol": "CAPN1",
"gene_hgnc_id": 1476,
"dbsnp": "rs758312955",
"frequency_reference_population": 0.0000037404245,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000275451,
"gnomad_genomes_af": 0.0000131638,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.768,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_005186.4",
"gene_symbol": "CAPN1",
"hgnc_id": 1476,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.188dupC",
"hgvs_p": "p.Val64fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}