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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: 15-55319267-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=55319267&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 55319267,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004855.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Ser6Ile",
"transcript": "NM_004855.5",
"protein_id": "NP_004846.4",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 554,
"cds_start": 17,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": "ENST00000164305.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Ser6Ile",
"transcript": "ENST00000164305.10",
"protein_id": "ENSP00000164305.5",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 554,
"cds_start": 17,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": "NM_004855.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Ser6Ile",
"transcript": "ENST00000566999.5",
"protein_id": "ENSP00000456531.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 254,
"cds_start": 17,
"cds_end": null,
"cds_length": 767,
"cdna_start": 23,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Ser6Ile",
"transcript": "ENST00000539642.5",
"protein_id": "ENSP00000438963.2",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 555,
"cds_start": 17,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 17,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Ser6Ile",
"transcript": "XM_011522235.4",
"protein_id": "XP_011520537.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 539,
"cds_start": 17,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Ser6Ile",
"transcript": "XM_011522236.4",
"protein_id": "XP_011520538.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 519,
"cds_start": 17,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Ser6Ile",
"transcript": "XM_047433365.1",
"protein_id": "XP_047289321.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 382,
"cds_start": 17,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1337,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.17G>T",
"hgvs_p": null,
"transcript": "ENST00000565367.5",
"protein_id": "ENSP00000455943.1",
"transcript_support_level": 2,
"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": 1812,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.36G>T",
"hgvs_p": null,
"transcript": "ENST00000569909.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 579,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.17G>T",
"hgvs_p": null,
"transcript": "ENST00000570059.1",
"protein_id": "ENSP00000456285.1",
"transcript_support_level": 5,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.-184G>T",
"hgvs_p": null,
"transcript": "XM_011522237.3",
"protein_id": "XP_011520539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.-345G>T",
"hgvs_p": null,
"transcript": "XM_047433363.1",
"protein_id": "XP_047289319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.-213G>T",
"hgvs_p": null,
"transcript": "XM_005254795.6",
"protein_id": "XP_005254852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "c.-374G>T",
"hgvs_p": null,
"transcript": "XM_047433364.1",
"protein_id": "XP_047289320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGBOS1",
"gene_hgnc_id": 50696,
"hgvs_c": "c.-479C>A",
"hgvs_p": null,
"transcript": "NM_001308421.2",
"protein_id": "NP_001295350.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 944,
"mane_select": "ENST00000436697.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGBOS1",
"gene_hgnc_id": 50696,
"hgvs_c": "c.-479C>A",
"hgvs_p": null,
"transcript": "ENST00000436697.3",
"protein_id": "ENSP00000484893.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 944,
"mane_select": "NM_001308421.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.-568C>A",
"hgvs_p": null,
"transcript": "NM_001438970.1",
"protein_id": "NP_001425899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": -4,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.-570C>A",
"hgvs_p": null,
"transcript": "ENST00000563262.5",
"protein_id": "ENSP00000457595.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGBOS1",
"gene_hgnc_id": 50696,
"hgvs_c": "c.-436C>A",
"hgvs_p": null,
"transcript": "NM_001308422.2",
"protein_id": "NP_001295351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGBOS1",
"gene_hgnc_id": 50696,
"hgvs_c": "c.-412C>A",
"hgvs_p": null,
"transcript": "NM_001308423.2",
"protein_id": "NP_001295352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGBOS1",
"gene_hgnc_id": 50696,
"hgvs_c": "c.-436C>A",
"hgvs_p": null,
"transcript": "ENST00000567948.1",
"protein_id": "ENSP00000482636.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGBOS1",
"gene_hgnc_id": 50696,
"hgvs_c": "c.-442C>A",
"hgvs_p": null,
"transcript": "ENST00000565225.1",
"protein_id": "ENSP00000481097.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": -4,
"cds_end": null,
"cds_length": 89,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "n.-157C>A",
"hgvs_p": null,
"transcript": "ENST00000561545.1",
"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": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"hgvs_c": "n.-6G>T",
"hgvs_p": null,
"transcript": "ENST00000566072.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGBOS1",
"gene_hgnc_id": 50696,
"hgvs_c": "c.-515C>A",
"hgvs_p": null,
"transcript": "XM_047432079.1",
"protein_id": "XP_047288035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIGB",
"gene_hgnc_id": 8959,
"dbsnp": "rs1053532065",
"frequency_reference_population": 0.0000018665817,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000013746,
"gnomad_genomes_af": 0.00000656849,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10370999574661255,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.1284,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.545,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004855.5",
"gene_symbol": "PIGB",
"hgnc_id": 8959,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17G>T",
"hgvs_p": "p.Ser6Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001308421.2",
"gene_symbol": "PIGBOS1",
"hgnc_id": 50696,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-479C>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001438970.1",
"gene_symbol": "RAB27A",
"hgnc_id": 9766,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-568C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}