← 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: 1-11748583-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11748583&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11748583,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020350.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.337C>A",
"hgvs_p": "p.Arg113Ser",
"transcript": "NM_020350.5",
"protein_id": "NP_065083.3",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 159,
"cds_start": 337,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314340.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020350.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.337C>A",
"hgvs_p": "p.Arg113Ser",
"transcript": "ENST00000314340.10",
"protein_id": "ENSP00000319713.5",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 159,
"cds_start": 337,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020350.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314340.10"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.337C>A",
"hgvs_p": "p.Arg113Ser",
"transcript": "ENST00000376629.8",
"protein_id": "ENSP00000365816.4",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 152,
"cds_start": 337,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376629.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.373C>A",
"hgvs_p": "p.Arg125Ser",
"transcript": "ENST00000856550.1",
"protein_id": "ENSP00000526609.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 171,
"cds_start": 373,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856550.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.373C>A",
"hgvs_p": "p.Arg125Ser",
"transcript": "ENST00000856551.1",
"protein_id": "ENSP00000526610.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 164,
"cds_start": 373,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856551.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.470C>A",
"hgvs_p": "p.Ala157Glu",
"transcript": "ENST00000376627.6",
"protein_id": "ENSP00000365814.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 159,
"cds_start": 470,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376627.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Glu",
"transcript": "NM_001040196.2",
"protein_id": "NP_001035286.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 155,
"cds_start": 434,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040196.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Glu",
"transcript": "ENST00000452018.6",
"protein_id": "ENSP00000408505.2",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 155,
"cds_start": 434,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452018.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.231C>A",
"hgvs_p": "p.Ser77Arg",
"transcript": "ENST00000510878.1",
"protein_id": "ENSP00000422647.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 155,
"cds_start": 231,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510878.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.337C>A",
"hgvs_p": "p.Arg113Ser",
"transcript": "NM_001040194.2",
"protein_id": "NP_001035284.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 152,
"cds_start": 337,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040194.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Glu",
"transcript": "NM_001040197.2",
"protein_id": "NP_001035287.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 147,
"cds_start": 434,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040197.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.434C>A",
"hgvs_p": "p.Ala145Glu",
"transcript": "ENST00000400895.6",
"protein_id": "ENSP00000383688.2",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 147,
"cds_start": 434,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400895.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.196C>A",
"hgvs_p": "p.Arg66Ser",
"transcript": "ENST00000929521.1",
"protein_id": "ENSP00000599580.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 112,
"cds_start": 196,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929521.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.302C>A",
"hgvs_p": "p.Ala101Glu",
"transcript": "NM_001040195.2",
"protein_id": "NP_001035285.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 111,
"cds_start": 302,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040195.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.302C>A",
"hgvs_p": "p.Ala101Glu",
"transcript": "ENST00000376637.7",
"protein_id": "ENSP00000365824.3",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 111,
"cds_start": 302,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376637.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.373C>A",
"hgvs_p": "p.Arg125Ser",
"transcript": "XM_011541800.4",
"protein_id": "XP_011540102.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 171,
"cds_start": 373,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541800.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.470C>A",
"hgvs_p": "p.Ala157Glu",
"transcript": "XM_011541802.3",
"protein_id": "XP_011540104.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 167,
"cds_start": 470,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541802.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.373C>A",
"hgvs_p": "p.Arg125Ser",
"transcript": "XM_011541799.4",
"protein_id": "XP_011540101.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 164,
"cds_start": 373,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541799.4"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "c.265+1038C>A",
"hgvs_p": null,
"transcript": "ENST00000856549.1",
"protein_id": "ENSP00000526608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856549.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "n.203C>A",
"hgvs_p": null,
"transcript": "ENST00000471765.1",
"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": "pseudogene",
"feature": "ENST00000471765.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "n.409C>A",
"hgvs_p": null,
"transcript": "ENST00000476309.5",
"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": "pseudogene",
"feature": "ENST00000476309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "n.*381C>A",
"hgvs_p": null,
"transcript": "ENST00000476512.5",
"protein_id": "ENSP00000424455.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000476512.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "n.698C>A",
"hgvs_p": null,
"transcript": "ENST00000491346.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491346.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "n.490C>A",
"hgvs_p": null,
"transcript": "ENST00000513739.5",
"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": "ENST00000513739.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "n.501C>A",
"hgvs_p": null,
"transcript": "ENST00000514733.5",
"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": "ENST00000514733.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"hgvs_c": "n.*381C>A",
"hgvs_p": null,
"transcript": "ENST00000476512.5",
"protein_id": "ENSP00000424455.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000476512.5"
}
],
"gene_symbol": "AGTRAP",
"gene_hgnc_id": 13539,
"dbsnp": "rs761441649",
"frequency_reference_population": 6.862768e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86277e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4136514663696289,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.795,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9304,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.904,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020350.5",
"gene_symbol": "AGTRAP",
"hgnc_id": 13539,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.337C>A",
"hgvs_p": "p.Arg113Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}