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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: 22-50516499-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50516499&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50516499,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001185011.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "NM_152299.4",
"protein_id": "NP_689512.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 605,
"cds_start": 161,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000420993.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152299.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000420993.7",
"protein_id": "ENSP00000410088.2",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 605,
"cds_start": 161,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152299.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420993.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000299821.15",
"protein_id": "ENSP00000299821.11",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 606,
"cds_start": 161,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299821.15"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000395698.7",
"protein_id": "ENSP00000379050.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 299,
"cds_start": 161,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395698.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Ile74Thr",
"transcript": "ENST00000910458.1",
"protein_id": "ENSP00000580517.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 625,
"cds_start": 221,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910458.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000910466.1",
"protein_id": "ENSP00000580525.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 614,
"cds_start": 161,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910466.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000910457.1",
"protein_id": "ENSP00000580516.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 613,
"cds_start": 161,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910457.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000910460.1",
"protein_id": "ENSP00000580519.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 612,
"cds_start": 161,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910460.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "NM_001185011.2",
"protein_id": "NP_001171940.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 606,
"cds_start": 161,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185011.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000910462.1",
"protein_id": "ENSP00000580521.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 605,
"cds_start": 161,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910462.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000910471.1",
"protein_id": "ENSP00000580530.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 605,
"cds_start": 161,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910471.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000954528.1",
"protein_id": "ENSP00000624587.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 605,
"cds_start": 161,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954528.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000954531.1",
"protein_id": "ENSP00000624590.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 605,
"cds_start": 161,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954531.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000910469.1",
"protein_id": "ENSP00000580528.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 604,
"cds_start": 161,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910469.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000924783.1",
"protein_id": "ENSP00000594842.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 604,
"cds_start": 161,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924783.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000954521.1",
"protein_id": "ENSP00000624580.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 604,
"cds_start": 161,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954521.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000954522.1",
"protein_id": "ENSP00000624581.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 604,
"cds_start": 161,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954522.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000924786.1",
"protein_id": "ENSP00000594845.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 603,
"cds_start": 161,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924786.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000954525.1",
"protein_id": "ENSP00000624584.1",
"transcript_support_level": null,
"aa_start": 54,
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"aa_length": 603,
"cds_start": 161,
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"cds_length": 1812,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954525.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000954532.1",
"protein_id": "ENSP00000624591.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
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"cds_start": 161,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954532.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000954529.1",
"protein_id": "ENSP00000624588.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 602,
"cds_start": 161,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954529.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr",
"transcript": "ENST00000910463.1",
"protein_id": "ENSP00000580522.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 601,
"cds_start": 161,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000418794.1"
},
{
"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": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "n.*27T>C",
"hgvs_p": null,
"transcript": "ENST00000518394.5",
"protein_id": "ENSP00000429060.1",
"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": "ENST00000518394.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "n.*27T>C",
"hgvs_p": null,
"transcript": "ENST00000418794.1",
"protein_id": "ENSP00000410480.1",
"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": "ENST00000418794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"hgvs_c": "n.*27T>C",
"hgvs_p": null,
"transcript": "ENST00000518394.5",
"protein_id": "ENSP00000429060.1",
"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": "ENST00000518394.5"
}
],
"gene_symbol": "NCAPH2",
"gene_hgnc_id": 25071,
"dbsnp": "rs150971534",
"frequency_reference_population": 0.00013691027,
"hom_count_reference_population": 0,
"allele_count_reference_population": 221,
"gnomad_exomes_af": 0.000136126,
"gnomad_genomes_af": 0.000144433,
"gnomad_exomes_ac": 199,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10074913501739502,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.0863,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.459,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001185011.2",
"gene_symbol": "NCAPH2",
"hgnc_id": 25071,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.161T>C",
"hgvs_p": "p.Ile54Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}