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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: 6-83172034-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83172034&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 83172034,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001199917.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "NM_015599.3",
"protein_id": "NP_056414.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 6079,
"mane_select": "ENST00000513973.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015599.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000513973.6",
"protein_id": "ENSP00000424874.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 6079,
"mane_select": "NM_015599.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513973.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000512866.5",
"protein_id": "ENSP00000421565.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 566,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512866.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1025T>C",
"hgvs_p": "p.Met342Thr",
"transcript": "ENST00000283977.9",
"protein_id": "ENSP00000283977.5",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 441,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283977.9"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Met451Thr",
"transcript": "NM_001199917.2",
"protein_id": "NP_001186846.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 570,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199917.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Met451Thr",
"transcript": "NM_001367287.1",
"protein_id": "NP_001354216.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 570,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 6216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367287.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Met451Thr",
"transcript": "ENST00000506587.5",
"protein_id": "ENSP00000425809.1",
"transcript_support_level": 2,
"aa_start": 451,
"aa_end": null,
"aa_length": 570,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506587.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Met451Thr",
"transcript": "ENST00000508748.6",
"protein_id": "ENSP00000424865.2",
"transcript_support_level": 5,
"aa_start": 451,
"aa_end": null,
"aa_length": 570,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508748.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "NM_001199919.2",
"protein_id": "NP_001186848.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 566,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199919.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000509219.2",
"protein_id": "ENSP00000423389.2",
"transcript_support_level": 5,
"aa_start": 423,
"aa_end": null,
"aa_length": 566,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509219.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000652468.1",
"protein_id": "ENSP00000499112.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 566,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652468.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1340T>C",
"hgvs_p": "p.Met447Thr",
"transcript": "ENST00000925376.1",
"protein_id": "ENSP00000595435.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 566,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925376.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000507554.2",
"protein_id": "ENSP00000425558.2",
"transcript_support_level": 4,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507554.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000925371.1",
"protein_id": "ENSP00000595430.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925371.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000925372.1",
"protein_id": "ENSP00000595431.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 6211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925372.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000925377.1",
"protein_id": "ENSP00000595436.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925377.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000941524.1",
"protein_id": "ENSP00000611583.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941524.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000941528.1",
"protein_id": "ENSP00000611587.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941528.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000941531.1",
"protein_id": "ENSP00000611590.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 542,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941531.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Met421Thr",
"transcript": "ENST00000941527.1",
"protein_id": "ENSP00000611586.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 540,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941527.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Met423Thr",
"transcript": "ENST00000941529.1",
"protein_id": "ENSP00000611588.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 540,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941529.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "c.1259T>C",
"hgvs_p": "p.Met420Thr",
"transcript": "ENST00000925375.1",
"protein_id": "ENSP00000595434.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 539,
"cds_start": 1259,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "n.*3362T>C",
"hgvs_p": null,
"transcript": "ENST00000698618.1",
"protein_id": "ENSP00000513842.1",
"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": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "n.*219T>C",
"hgvs_p": null,
"transcript": "ENST00000698620.1",
"protein_id": "ENSP00000513843.1",
"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": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"hgvs_c": "n.*104-1556T>C",
"hgvs_p": null,
"transcript": "ENST00000651204.2",
"protein_id": "ENSP00000498912.2",
"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": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651204.2"
}
],
"gene_symbol": "PGM3",
"gene_hgnc_id": 8907,
"dbsnp": "rs1554257039",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7967543601989746,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.633,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199917.2",
"gene_symbol": "PGM3",
"hgnc_id": 8907,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Met451Thr"
}
],
"clinvar_disease": "Immunodeficiency 23,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Immunodeficiency 23|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}