← 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: 12-110387810-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110387810&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110387810,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001385208.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "NM_016238.3",
"protein_id": "NP_057322.3",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 565,
"cds_start": 603,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000455511.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016238.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000455511.9",
"protein_id": "ENSP00000394394.4",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 565,
"cds_start": 603,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016238.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455511.9"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000450008.3",
"protein_id": "ENSP00000402314.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 503,
"cds_start": 603,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450008.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.705G>C",
"hgvs_p": "p.Trp235Cys",
"transcript": "ENST00000880053.1",
"protein_id": "ENSP00000550112.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 599,
"cds_start": 705,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880053.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.654G>C",
"hgvs_p": "p.Trp218Cys",
"transcript": "ENST00000961552.1",
"protein_id": "ENSP00000631611.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 582,
"cds_start": 654,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961552.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Trp215Cys",
"transcript": "NM_001385208.1",
"protein_id": "NP_001372137.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 579,
"cds_start": 645,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385208.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000961551.1",
"protein_id": "ENSP00000631610.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 565,
"cds_start": 603,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961551.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000929444.1",
"protein_id": "ENSP00000599503.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 562,
"cds_start": 603,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929444.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000880052.1",
"protein_id": "ENSP00000550111.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 548,
"cds_start": 603,
"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": "ENST00000880052.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000929443.1",
"protein_id": "ENSP00000599502.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 529,
"cds_start": 603,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929443.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "NM_001137664.2",
"protein_id": "NP_001131136.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 503,
"cds_start": 603,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001137664.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.402G>C",
"hgvs_p": "p.Trp134Cys",
"transcript": "NM_001385209.1",
"protein_id": "NP_001372138.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 498,
"cds_start": 402,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385209.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.402G>C",
"hgvs_p": "p.Trp134Cys",
"transcript": "NM_001385210.1",
"protein_id": "NP_001372139.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 498,
"cds_start": 402,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385210.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "NM_001385211.1",
"protein_id": "NP_001372140.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 490,
"cds_start": 603,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385211.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000929447.1",
"protein_id": "ENSP00000599506.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 478,
"cds_start": 603,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929447.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000929445.1",
"protein_id": "ENSP00000599504.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 460,
"cds_start": 603,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929445.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.603G>C",
"hgvs_p": "p.Trp201Cys",
"transcript": "ENST00000961554.1",
"protein_id": "ENSP00000631613.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 423,
"cds_start": 603,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961554.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.42G>C",
"hgvs_p": "p.Trp14Cys",
"transcript": "NM_001385212.1",
"protein_id": "NP_001372141.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 378,
"cds_start": 42,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.520+702G>C",
"hgvs_p": null,
"transcript": "ENST00000929446.1",
"protein_id": "ENSP00000599505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.409-1444G>C",
"hgvs_p": null,
"transcript": "ENST00000880054.1",
"protein_id": "ENSP00000550113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880054.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.520+702G>C",
"hgvs_p": null,
"transcript": "ENST00000961553.1",
"protein_id": "ENSP00000631612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.89-10193G>C",
"hgvs_p": null,
"transcript": "ENST00000880055.1",
"protein_id": "ENSP00000550114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880055.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "n.553G>C",
"hgvs_p": null,
"transcript": "ENST00000464697.1",
"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": "retained_intron",
"feature": "ENST00000464697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "n.560G>C",
"hgvs_p": null,
"transcript": "ENST00000546720.5",
"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": "pseudogene",
"feature": "ENST00000546720.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258210",
"gene_hgnc_id": null,
"hgvs_c": "n.599G>C",
"hgvs_p": null,
"transcript": "ENST00000550231.1",
"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": "retained_intron",
"feature": "ENST00000550231.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "n.*290G>C",
"hgvs_p": null,
"transcript": "ENST00000552170.2",
"protein_id": "ENSP00000450405.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552170.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "n.684G>C",
"hgvs_p": null,
"transcript": "XR_007063088.1",
"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": "XR_007063088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "n.*290G>C",
"hgvs_p": null,
"transcript": "ENST00000552170.2",
"protein_id": "ENSP00000450405.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552170.2"
}
],
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"dbsnp": "rs199898262",
"frequency_reference_population": 0.0000018586624,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84052e-7,
"gnomad_genomes_af": 0.0000131418,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8810622692108154,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.438,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9976,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.565,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001385208.1",
"gene_symbol": "ANAPC7",
"hgnc_id": 17380,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Trp215Cys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000550231.1",
"gene_symbol": "ENSG00000258210",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.599G>C",
"hgvs_p": null
}
],
"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
}