← 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: 10-50008914-CAA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=50008914&ref=CAA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 50008914,
"ref": "CAA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001077665.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "c.791_792delAA",
"hgvs_p": "p.Lys264fs",
"transcript": "NM_001077665.3",
"protein_id": "NP_001071133.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 686,
"cds_start": 791,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": "ENST00000412531.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077665.3"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "c.791_792delAA",
"hgvs_p": "p.Lys264fs",
"transcript": "ENST00000412531.7",
"protein_id": "ENSP00000500374.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 686,
"cds_start": 791,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": "NM_001077665.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412531.7"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "c.722_723delAA",
"hgvs_p": "p.Lys241fs",
"transcript": "ENST00000374056.10",
"protein_id": "ENSP00000363168.6",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 663,
"cds_start": 722,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374056.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "c.*374_*375delAA",
"hgvs_p": null,
"transcript": "ENST00000311652.11",
"protein_id": "ENSP00000309985.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311652.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.*1006_*1007delAA",
"hgvs_p": null,
"transcript": "ENST00000651763.1",
"protein_id": "ENSP00000502214.1",
"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": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.*1006_*1007delAA",
"hgvs_p": null,
"transcript": "ENST00000651763.1",
"protein_id": "ENSP00000502214.1",
"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": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "c.*244_*245delAA",
"hgvs_p": null,
"transcript": "ENST00000679810.1",
"protein_id": "ENSP00000505254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "n.1109_1110delAA",
"hgvs_p": null,
"transcript": "ENST00000618025.4",
"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": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000618025.4"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "n.1272_1273delAA",
"hgvs_p": null,
"transcript": "ENST00000618171.5",
"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": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000618171.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.*1200_*1201delAA",
"hgvs_p": null,
"transcript": "ENST00000651208.1",
"protein_id": "ENSP00000502504.1",
"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": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "n.798_799delAA",
"hgvs_p": null,
"transcript": "ENST00000679578.1",
"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": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679578.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "n.1294_1295delAA",
"hgvs_p": null,
"transcript": "ENST00000679610.1",
"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": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "n.*625_*626delAA",
"hgvs_p": null,
"transcript": "ENST00000680115.1",
"protein_id": "ENSP00000505645.1",
"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": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680115.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "n.515_516delAA",
"hgvs_p": null,
"transcript": "ENST00000681530.1",
"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": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.1296_1297delAA",
"hgvs_p": null,
"transcript": "NR_158654.1",
"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": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158654.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.1355_1356delAA",
"hgvs_p": null,
"transcript": "NR_158656.1",
"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": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.1479_1480delAA",
"hgvs_p": null,
"transcript": "NR_158657.1",
"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": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.1554_1555delAA",
"hgvs_p": null,
"transcript": "NR_158658.1",
"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": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.1705_1706delAA",
"hgvs_p": null,
"transcript": "NR_158659.1",
"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": 3305,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.1737_1738delAA",
"hgvs_p": null,
"transcript": "NR_158660.1",
"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": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.2017_2018delAA",
"hgvs_p": null,
"transcript": "NR_158661.1",
"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": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_158661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "n.1473_1474delAA",
"hgvs_p": null,
"transcript": "NR_171667.1",
"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": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_171667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIMM23B-AGAP6",
"gene_hgnc_id": 45009,
"hgvs_c": "n.*1200_*1201delAA",
"hgvs_p": null,
"transcript": "ENST00000651208.1",
"protein_id": "ENSP00000502504.1",
"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": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"hgvs_c": "n.*625_*626delAA",
"hgvs_p": null,
"transcript": "ENST00000680115.1",
"protein_id": "ENSP00000505645.1",
"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": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680115.1"
}
],
"gene_symbol": "AGAP6",
"gene_hgnc_id": 23466,
"dbsnp": "rs113234838",
"frequency_reference_population": 0.18907425,
"hom_count_reference_population": 3256,
"allele_count_reference_population": 28720,
"gnomad_exomes_af": 0.245598,
"gnomad_genomes_af": 0.189074,
"gnomad_exomes_ac": 358878,
"gnomad_genomes_ac": 28720,
"gnomad_exomes_homalt": 46442,
"gnomad_genomes_homalt": 3256,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"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": 3.468,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001077665.3",
"gene_symbol": "AGAP6",
"hgnc_id": 23466,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.791_792delAA",
"hgvs_p": "p.Lys264fs"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000651763.1",
"gene_symbol": "TIMM23B-AGAP6",
"hgnc_id": 45009,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1006_*1007delAA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}