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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: 17-57105871-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57105871&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 57105871,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003488.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "NM_003488.4",
"protein_id": "NP_003479.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337714.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003488.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000337714.8",
"protein_id": "ENSP00000337736.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003488.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337714.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000314126.4",
"protein_id": "ENSP00000314075.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 593,
"cds_start": 407,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314126.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000964437.1",
"protein_id": "ENSP00000634496.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 923,
"cds_start": 407,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964437.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000964438.1",
"protein_id": "ENSP00000634497.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 914,
"cds_start": 407,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964438.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000964441.1",
"protein_id": "ENSP00000634500.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 914,
"cds_start": 407,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964441.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "NM_001242902.2",
"protein_id": "NP_001229831.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242902.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "NM_001242903.2",
"protein_id": "NP_001229832.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242903.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "NM_001370423.1",
"protein_id": "NP_001357352.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370423.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "NM_001370424.1",
"protein_id": "NP_001357353.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370424.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "NM_001370425.1",
"protein_id": "NP_001357354.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370425.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "NM_001370426.1",
"protein_id": "NP_001357355.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370426.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "NM_001370427.1",
"protein_id": "NP_001357356.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370427.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000539273.5",
"protein_id": "ENSP00000443139.1",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539273.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000571629.5",
"protein_id": "ENSP00000459968.1",
"transcript_support_level": 2,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571629.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000572557.5",
"protein_id": "ENSP00000459895.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572557.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000621116.4",
"protein_id": "ENSP00000478212.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621116.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000856869.1",
"protein_id": "ENSP00000526928.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856869.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000856870.1",
"protein_id": "ENSP00000526929.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856870.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000856871.1",
"protein_id": "ENSP00000526930.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856871.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000856872.1",
"protein_id": "ENSP00000526931.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856872.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys",
"transcript": "ENST00000856873.1",
"protein_id": "ENSP00000526932.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 903,
"cds_start": 407,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572814.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "n.407C>A",
"hgvs_p": null,
"transcript": "ENST00000481416.5",
"protein_id": "ENSP00000433212.1",
"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": "ENST00000481416.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.-152C>A",
"hgvs_p": null,
"transcript": "ENST00000576295.5",
"protein_id": "ENSP00000458378.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576295.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.*122C>A",
"hgvs_p": null,
"transcript": "ENST00000574683.1",
"protein_id": "ENSP00000460209.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.*158C>A",
"hgvs_p": null,
"transcript": "ENST00000576591.1",
"protein_id": "ENSP00000460514.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576591.1"
}
],
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"dbsnp": "rs1411325913",
"frequency_reference_population": 0.0000012390499,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": 0.00000656814,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06170728802680969,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.007,
"revel_prediction": "Benign",
"alphamissense_score": 0.1196,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.636,
"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": -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_003488.4",
"gene_symbol": "AKAP1",
"hgnc_id": 367,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Thr136Lys"
}
],
"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
}