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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: 6-32183666-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32183666&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32183666,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001206929.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "NM_001136.5",
"protein_id": "NP_001127.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 404,
"cds_start": 244,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375076.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000375076.9",
"protein_id": "ENSP00000364217.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 404,
"cds_start": 244,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001136.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375076.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000375069.7",
"protein_id": "ENSP00000364210.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 420,
"cds_start": 244,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375069.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000438221.6",
"protein_id": "ENSP00000387887.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 363,
"cds_start": 244,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438221.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000375055.6",
"protein_id": "ENSP00000364195.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 347,
"cds_start": 244,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375055.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser",
"transcript": "ENST00000375067.7",
"protein_id": "ENSP00000364208.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 342,
"cds_start": 202,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375067.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.451G>A",
"hgvs_p": null,
"transcript": "ENST00000484849.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000484849.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "NM_001206929.2",
"protein_id": "NP_001193858.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 420,
"cds_start": 244,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206929.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"transcript": "ENST00000851471.1",
"protein_id": "ENSP00000521530.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 418,
"cds_start": 238,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851471.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Ser",
"transcript": "ENST00000966081.1",
"protein_id": "ENSP00000636140.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 417,
"cds_start": 235,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966081.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000851466.1",
"protein_id": "ENSP00000521525.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 416,
"cds_start": 244,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851466.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"transcript": "ENST00000966077.1",
"protein_id": "ENSP00000636136.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 415,
"cds_start": 238,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966077.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Ser",
"transcript": "ENST00000851480.1",
"protein_id": "ENSP00000521539.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 414,
"cds_start": 235,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851480.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000966078.1",
"protein_id": "ENSP00000636137.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 412,
"cds_start": 244,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966078.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser",
"transcript": "ENST00000851470.1",
"protein_id": "ENSP00000521529.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 406,
"cds_start": 202,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851470.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000851475.1",
"protein_id": "ENSP00000521534.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 403,
"cds_start": 244,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851475.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"transcript": "ENST00000851463.1",
"protein_id": "ENSP00000521522.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 402,
"cds_start": 238,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851463.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser",
"transcript": "ENST00000966076.1",
"protein_id": "ENSP00000636135.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 402,
"cds_start": 244,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966076.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.235G>A",
"hgvs_p": "p.Gly79Ser",
"transcript": "ENST00000851468.1",
"protein_id": "ENSP00000521527.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 401,
"cds_start": 235,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851468.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Gly78Ser",
"transcript": "ENST00000851478.1",
"protein_id": "ENSP00000521537.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 400,
"cds_start": 232,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851478.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Gly73Ser",
"transcript": "ENST00000851472.1",
"protein_id": "ENSP00000521531.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 395,
"cds_start": 217,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851472.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Ser",
"transcript": "NM_001206932.2",
"protein_id": "NP_001193861.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 390,
"cds_start": 202,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206932.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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"transcript": "ENST00000851469.1",
"protein_id": "ENSP00000521528.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851469.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.53-278G>A",
"hgvs_p": null,
"transcript": "ENST00000966079.1",
"protein_id": "ENSP00000636138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966079.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.458G>A",
"hgvs_p": null,
"transcript": "NR_038190.2",
"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_038190.2"
}
],
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"dbsnp": "rs2070600",
"frequency_reference_population": 0.056141622,
"hom_count_reference_population": 3365,
"allele_count_reference_population": 90557,
"gnomad_exomes_af": 0.0579575,
"gnomad_genomes_af": 0.0387192,
"gnomad_exomes_ac": 84662,
"gnomad_genomes_ac": 5895,
"gnomad_exomes_homalt": 3131,
"gnomad_genomes_homalt": 234,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001693129539489746,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7300000190734863,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.3066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.459,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.73,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BA1",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 8,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001206929.2",
"gene_symbol": "AGER",
"hgnc_id": 320,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Gly82Ser"
}
],
"clinvar_disease": " severe early onset,COPD",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "COPD, severe early onset",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}