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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: 10-32471121-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32471121&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 32471121,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001321115.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "NM_001395015.1",
"protein_id": "NP_001381944.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1385,
"cds_start": 568,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000639629.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395015.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "ENST00000639629.2",
"protein_id": "ENSP00000491655.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 1385,
"cds_start": 568,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395015.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639629.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "ENST00000277657.12",
"protein_id": "ENSP00000277657.6",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 486,
"cds_start": 568,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277657.12"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "ENST00000362006.11",
"protein_id": "ENSP00000355078.5",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 486,
"cds_start": 568,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362006.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.510+8072A>G",
"hgvs_p": null,
"transcript": "ENST00000537047.5",
"protein_id": "ENSP00000440632.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537047.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.510+8072A>G",
"hgvs_p": null,
"transcript": "ENST00000539197.5",
"protein_id": "ENSP00000441041.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539197.5"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.511-1360A>G",
"hgvs_p": null,
"transcript": "ENST00000545067.6",
"protein_id": "ENSP00000439930.1",
"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": "ENST00000545067.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "NM_001321115.2",
"protein_id": "NP_001308044.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1385,
"cds_start": 568,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321115.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "NM_001026383.3",
"protein_id": "NP_001021554.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 486,
"cds_start": 568,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001026383.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "NM_145023.6",
"protein_id": "NP_659460.3",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 486,
"cds_start": 568,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145023.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_047425742.1",
"protein_id": "XP_047281698.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1385,
"cds_start": 568,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425742.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_047425743.1",
"protein_id": "XP_047281699.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1385,
"cds_start": 568,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425743.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_011519664.1",
"protein_id": "XP_011517966.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1380,
"cds_start": 568,
"cds_end": null,
"cds_length": 4143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519664.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Ile183Val",
"transcript": "XM_024448165.1",
"protein_id": "XP_024303933.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1378,
"cds_start": 547,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448165.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Ile179Val",
"transcript": "XM_024448166.1",
"protein_id": "XP_024303934.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1374,
"cds_start": 535,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448166.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_017016638.1",
"protein_id": "XP_016872127.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1370,
"cds_start": 568,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016638.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_011519666.1",
"protein_id": "XP_011517968.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1357,
"cds_start": 568,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519666.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_011519667.1",
"protein_id": "XP_011517969.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1357,
"cds_start": 568,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519667.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_011519668.1",
"protein_id": "XP_011517970.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1355,
"cds_start": 568,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519668.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_011519669.1",
"protein_id": "XP_011517971.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1351,
"cds_start": 568,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519669.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_011519670.1",
"protein_id": "XP_011517972.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1349,
"cds_start": 568,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519670.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val",
"transcript": "XM_011519671.1",
"protein_id": "XP_011517973.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 1349,
"cds_start": 568,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519671.1"
},
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.-133-1360A>G",
"hgvs_p": null,
"transcript": "XM_017016643.1",
"protein_id": "XP_016872132.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": null,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "c.-162-1360A>G",
"hgvs_p": null,
"transcript": "XM_047425747.1",
"protein_id": "XP_047281703.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1080,
"cds_start": null,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.568A>G",
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"transcript": "ENST00000476558.7",
"protein_id": "ENSP00000436435.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000476558.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.877A>G",
"hgvs_p": null,
"transcript": "NR_109826.2",
"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_109826.2"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"hgvs_c": "n.1054-1360A>G",
"hgvs_p": null,
"transcript": "NR_109827.2",
"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_109827.2"
}
],
"gene_symbol": "CCDC7",
"gene_hgnc_id": 26533,
"dbsnp": "rs774895094",
"frequency_reference_population": 0.000008062785,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000753354,
"gnomad_genomes_af": 0.0000131397,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05122748017311096,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1315,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.527,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001321115.2",
"gene_symbol": "CCDC7",
"hgnc_id": 26533,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.568A>G",
"hgvs_p": "p.Ile190Val"
}
],
"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
}