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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: 11-111809772-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111809772&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111809772,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001441203.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1604T>G",
"hgvs_p": "p.Ile535Ser",
"transcript": "NM_024740.2",
"protein_id": "NP_079016.2",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 618,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616540.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024740.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1604T>G",
"hgvs_p": "p.Ile535Ser",
"transcript": "ENST00000616540.5",
"protein_id": "ENSP00000482437.1",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 618,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024740.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616540.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258529",
"gene_hgnc_id": null,
"hgvs_c": "c.2282T>G",
"hgvs_p": "p.Ile761Ser",
"transcript": "ENST00000622211.4",
"protein_id": "ENSP00000482396.1",
"transcript_support_level": 2,
"aa_start": 761,
"aa_end": null,
"aa_length": 844,
"cds_start": 2282,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622211.4"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1583T>G",
"hgvs_p": "p.Ile528Ser",
"transcript": "ENST00000614444.4",
"protein_id": "ENSP00000484200.1",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614444.4"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Ile357Ser",
"transcript": "ENST00000398006.6",
"protein_id": "ENSP00000381090.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 440,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398006.6"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1604T>G",
"hgvs_p": "p.Ile535Ser",
"transcript": "NM_001441203.1",
"protein_id": "NP_001428132.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 629,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441203.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1583T>G",
"hgvs_p": "p.Ile528Ser",
"transcript": "NM_001352417.1",
"protein_id": "NP_001339346.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 622,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352417.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1583T>G",
"hgvs_p": "p.Ile528Ser",
"transcript": "NM_001077690.1",
"protein_id": "NP_001071158.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077690.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1583T>G",
"hgvs_p": "p.Ile528Ser",
"transcript": "ENST00000928987.1",
"protein_id": "ENSP00000599046.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 611,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928987.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1577T>G",
"hgvs_p": "p.Ile526Ser",
"transcript": "ENST00000943100.1",
"protein_id": "ENSP00000613159.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 609,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943100.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1604T>G",
"hgvs_p": "p.Ile535Ser",
"transcript": "NM_001441204.1",
"protein_id": "NP_001428133.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 598,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441204.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1583T>G",
"hgvs_p": "p.Ile528Ser",
"transcript": "NM_001441205.1",
"protein_id": "NP_001428134.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 591,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441205.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1481T>G",
"hgvs_p": "p.Ile494Ser",
"transcript": "NM_001441206.1",
"protein_id": "NP_001428135.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 577,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441206.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1481T>G",
"hgvs_p": "p.Ile494Ser",
"transcript": "ENST00000857227.1",
"protein_id": "ENSP00000527286.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 577,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857227.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1460T>G",
"hgvs_p": "p.Ile487Ser",
"transcript": "NM_001352418.1",
"protein_id": "NP_001339347.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 570,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352418.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1460T>G",
"hgvs_p": "p.Ile487Ser",
"transcript": "ENST00000857228.1",
"protein_id": "ENSP00000527287.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 570,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857228.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1298T>G",
"hgvs_p": "p.Ile433Ser",
"transcript": "ENST00000857229.1",
"protein_id": "ENSP00000527288.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 516,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857229.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1091T>G",
"hgvs_p": "p.Ile364Ser",
"transcript": "NM_001352419.1",
"protein_id": "NP_001339348.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 458,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352419.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Ile357Ser",
"transcript": "NM_001352415.1",
"protein_id": "NP_001339344.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 451,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352415.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Ile357Ser",
"transcript": "NM_001352416.1",
"protein_id": "NP_001339345.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 451,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352416.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1091T>G",
"hgvs_p": "p.Ile364Ser",
"transcript": "NM_001077691.2",
"protein_id": "NP_001071159.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 447,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077691.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007062503.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "n.1834T>G",
"hgvs_p": null,
"transcript": "XR_007062504.1",
"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": "XR_007062504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "n.*1135T>G",
"hgvs_p": null,
"transcript": "ENST00000619129.4",
"protein_id": "ENSP00000480661.1",
"transcript_support_level": 2,
"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": "ENST00000619129.4"
},
{
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "n.-65T>G",
"hgvs_p": null,
"transcript": "ENST00000524671.1",
"protein_id": "ENSP00000436798.1",
"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": "ENST00000524671.1"
},
{
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "n.-83T>G",
"hgvs_p": null,
"transcript": "ENST00000525910.1",
"protein_id": "ENSP00000437211.1",
"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": "ENST00000525910.1"
}
],
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"dbsnp": "rs12575909",
"frequency_reference_population": 0.0011369805,
"hom_count_reference_population": 41,
"allele_count_reference_population": 1835,
"gnomad_exomes_af": 0.00109809,
"gnomad_genomes_af": 0.00151024,
"gnomad_exomes_ac": 1605,
"gnomad_genomes_ac": 230,
"gnomad_exomes_homalt": 35,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0064125657081604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.46399998664855957,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.402,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.782,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.363496053105457,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001441203.1",
"gene_symbol": "ALG9",
"hgnc_id": 15672,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1604T>G",
"hgvs_p": "p.Ile535Ser"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000622211.4",
"gene_symbol": "ENSG00000258529",
"hgnc_id": null,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2282T>G",
"hgvs_p": "p.Ile761Ser"
}
],
"clinvar_disease": "ALG9 congenital disorder of glycosylation,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not provided|not specified|ALG9 congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}