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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: 17-75755785-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75755785&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75755785,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000200181.8",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4643G>A",
"hgvs_p": "p.Trp1548*",
"transcript": "NM_000213.5",
"protein_id": "NP_000204.3",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1822,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 4807,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": "ENST00000200181.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4643G>A",
"hgvs_p": "p.Trp1548*",
"transcript": "ENST00000200181.8",
"protein_id": "ENSP00000200181.3",
"transcript_support_level": 1,
"aa_start": 1548,
"aa_end": null,
"aa_length": 1822,
"cds_start": 4643,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 4807,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": "NM_000213.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4592G>A",
"hgvs_p": "p.Trp1531*",
"transcript": "ENST00000449880.7",
"protein_id": "ENSP00000400217.2",
"transcript_support_level": 1,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1805,
"cds_start": 4592,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 4756,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Trp1478*",
"transcript": "ENST00000450894.7",
"protein_id": "ENSP00000405536.3",
"transcript_support_level": 1,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1752,
"cds_start": 4433,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 4559,
"cdna_end": null,
"cdna_length": 5645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Trp1478*",
"transcript": "ENST00000579662.5",
"protein_id": "ENSP00000463651.1",
"transcript_support_level": 1,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1752,
"cds_start": 4433,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 4679,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4592G>A",
"hgvs_p": "p.Trp1531*",
"transcript": "NM_001005619.2",
"protein_id": "NP_001005619.1",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 1805,
"cds_start": 4592,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 4756,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Trp1478*",
"transcript": "NM_001005731.3",
"protein_id": "NP_001005731.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1752,
"cds_start": 4433,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 4597,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Trp1478*",
"transcript": "NM_001321123.2",
"protein_id": "NP_001308052.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1752,
"cds_start": 4433,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 4548,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4907G>A",
"hgvs_p": "p.Trp1636*",
"transcript": "XM_006721866.4",
"protein_id": "XP_006721929.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1910,
"cds_start": 4907,
"cds_end": null,
"cds_length": 5733,
"cdna_start": 5056,
"cdna_end": null,
"cdna_length": 6145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4802G>A",
"hgvs_p": "p.Trp1601*",
"transcript": "XM_005257309.3",
"protein_id": "XP_005257366.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1875,
"cds_start": 4802,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 4917,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4802G>A",
"hgvs_p": "p.Trp1601*",
"transcript": "XM_005257311.5",
"protein_id": "XP_005257368.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1875,
"cds_start": 4802,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 4966,
"cdna_end": null,
"cdna_length": 6055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4907G>A",
"hgvs_p": "p.Trp1636*",
"transcript": "XM_047435926.1",
"protein_id": "XP_047291882.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1867,
"cds_start": 4907,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 5056,
"cdna_end": null,
"cdna_length": 6250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4748G>A",
"hgvs_p": "p.Trp1583*",
"transcript": "XM_006721867.4",
"protein_id": "XP_006721930.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1857,
"cds_start": 4748,
"cds_end": null,
"cds_length": 5574,
"cdna_start": 4897,
"cdna_end": null,
"cdna_length": 5986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4697G>A",
"hgvs_p": "p.Trp1566*",
"transcript": "XM_006721868.4",
"protein_id": "XP_006721931.1",
"transcript_support_level": null,
"aa_start": 1566,
"aa_end": null,
"aa_length": 1840,
"cds_start": 4697,
"cds_end": null,
"cds_length": 5523,
"cdna_start": 4846,
"cdna_end": null,
"cdna_length": 5935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4538G>A",
"hgvs_p": "p.Trp1513*",
"transcript": "XM_006721870.4",
"protein_id": "XP_006721933.1",
"transcript_support_level": null,
"aa_start": 1513,
"aa_end": null,
"aa_length": 1787,
"cds_start": 4538,
"cds_end": null,
"cds_length": 5364,
"cdna_start": 4687,
"cdna_end": null,
"cdna_length": 5776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.2747G>A",
"hgvs_p": "p.Trp916*",
"transcript": "XM_011524752.3",
"protein_id": "XP_011523054.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2747,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 3297,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "n.676G>A",
"hgvs_p": null,
"transcript": "ENST00000583327.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4349-644G>A",
"hgvs_p": null,
"transcript": "NM_001438834.1",
"protein_id": "NP_001425763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1702,
"cds_start": -4,
"cds_end": null,
"cds_length": 5109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.*22+2249C>T",
"hgvs_p": null,
"transcript": "NM_001381985.1",
"protein_id": "NP_001368914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.*22+2249C>T",
"hgvs_p": null,
"transcript": "ENST00000225614.6",
"protein_id": "ENSP00000225614.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.197-644G>A",
"hgvs_p": null,
"transcript": "ENST00000584939.1",
"protein_id": "ENSP00000464259.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.266-1841G>A",
"hgvs_p": null,
"transcript": "ENST00000582629.1",
"protein_id": "ENSP00000463788.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "n.254+2249C>T",
"hgvs_p": null,
"transcript": "ENST00000589643.1",
"protein_id": null,
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{
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{
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},
{
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"gene_symbol": "ITGB4",
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],
"gene_symbol": "ITGB4",
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"dbsnp": "rs121912464",
"frequency_reference_population": 6.850263e-7,
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85026e-7,
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"gnomad_exomes_ac": 1,
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"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000200181.8",
"gene_symbol": "ITGB4",
"hgnc_id": 6158,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.4643G>A",
"hgvs_p": "p.Trp1548*"
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{
"score": 7,
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"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001381985.1",
"gene_symbol": "GALK1",
"hgnc_id": 4118,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Junctional epidermolysis bullosa with pyloric atresia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Junctional epidermolysis bullosa with pyloric atresia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}