← Back to variant description
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: 2-240586936-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240586936&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240586936,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_023083.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "NM_023083.4",
"protein_id": "NP_075571.2",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 672,
"cds_start": 25,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000391984.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023083.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000391984.7",
"protein_id": "ENSP00000375844.2",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 672,
"cds_start": 25,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023083.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391984.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000354082.8",
"protein_id": "ENSP00000270362.6",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 517,
"cds_start": 25,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354082.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000352879.8",
"protein_id": "ENSP00000289381.6",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 138,
"cds_start": 25,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352879.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.25C>T",
"hgvs_p": null,
"transcript": "ENST00000270361.15",
"protein_id": "ENSP00000270361.11",
"transcript_support_level": 1,
"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": "ENST00000270361.15"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.25C>T",
"hgvs_p": null,
"transcript": "ENST00000357048.8",
"protein_id": "ENSP00000349556.4",
"transcript_support_level": 1,
"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": "ENST00000357048.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.25C>T",
"hgvs_p": null,
"transcript": "ENST00000391983.7",
"protein_id": "ENSP00000375843.3",
"transcript_support_level": 1,
"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": "ENST00000391983.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.25C>T",
"hgvs_p": null,
"transcript": "ENST00000416591.5",
"protein_id": "ENSP00000400144.1",
"transcript_support_level": 1,
"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": "ENST00000416591.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000953349.1",
"protein_id": "ENSP00000623408.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 677,
"cds_start": 25,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953349.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000857395.1",
"protein_id": "ENSP00000527454.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 672,
"cds_start": 25,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857395.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000938609.1",
"protein_id": "ENSP00000608668.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 672,
"cds_start": 25,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938609.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000953347.1",
"protein_id": "ENSP00000623406.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 671,
"cds_start": 25,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953347.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000938613.1",
"protein_id": "ENSP00000608672.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 669,
"cds_start": 25,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938613.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000404753.7",
"protein_id": "ENSP00000384422.3",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 653,
"cds_start": 25,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404753.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000953348.1",
"protein_id": "ENSP00000623407.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 650,
"cds_start": 25,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953348.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000938610.1",
"protein_id": "ENSP00000608669.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 645,
"cds_start": 25,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938610.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000938611.1",
"protein_id": "ENSP00000608670.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 645,
"cds_start": 25,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938611.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000857397.1",
"protein_id": "ENSP00000527456.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 618,
"cds_start": 25,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857397.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000938612.1",
"protein_id": "ENSP00000608671.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 603,
"cds_start": 25,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938612.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000938614.1",
"protein_id": "ENSP00000608673.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 569,
"cds_start": 25,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938614.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000857396.1",
"protein_id": "ENSP00000527455.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 548,
"cds_start": 25,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857396.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000953350.1",
"protein_id": "ENSP00000623409.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 535,
"cds_start": 25,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953350.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "NM_023085.4",
"protein_id": "NP_075573.3",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 517,
"cds_start": 25,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023085.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser",
"transcript": "ENST00000270364.11",
"protein_id": "ENSP00000270364.7",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 139,
"cds_start": 25,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270364.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"hgvs_c": "n.203C>T",
"hgvs_p": null,
"transcript": "ENST00000463653.1",
"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": "ENST00000463653.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPN10-DT",
"gene_hgnc_id": 48839,
"hgvs_c": "n.-237G>A",
"hgvs_p": null,
"transcript": "ENST00000567819.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000567819.1"
}
],
"gene_symbol": "CAPN10",
"gene_hgnc_id": 1477,
"dbsnp": "rs2093071654",
"frequency_reference_population": 0.000003844953,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000384495,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18405580520629883,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.0847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.308,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_023083.4",
"gene_symbol": "CAPN10",
"hgnc_id": 1477,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Pro9Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000567819.1",
"gene_symbol": "CAPN10-DT",
"hgnc_id": 48839,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-237G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}