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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: 7-65961018-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=65961018&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 65961018,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_000181.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1834delC",
"hgvs_p": "p.Gln612fs",
"transcript": "NM_000181.4",
"protein_id": "NP_000172.2",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 651,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304895.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000181.4"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1834delC",
"hgvs_p": "p.Gln612fs",
"transcript": "ENST00000304895.9",
"protein_id": "ENSP00000302728.4",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 651,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000181.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304895.9"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1918delC",
"hgvs_p": "p.Gln640fs",
"transcript": "ENST00000864783.1",
"protein_id": "ENSP00000534842.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 679,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864783.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1864delC",
"hgvs_p": "p.Gln622fs",
"transcript": "ENST00000864792.1",
"protein_id": "ENSP00000534851.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 661,
"cds_start": 1864,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864792.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1861delC",
"hgvs_p": "p.Gln621fs",
"transcript": "ENST00000864788.1",
"protein_id": "ENSP00000534847.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 660,
"cds_start": 1861,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864788.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1855delC",
"hgvs_p": "p.Gln619fs",
"transcript": "ENST00000912577.1",
"protein_id": "ENSP00000582636.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 658,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912577.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1831delC",
"hgvs_p": "p.Gln611fs",
"transcript": "ENST00000864780.1",
"protein_id": "ENSP00000534839.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 650,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864780.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1801delC",
"hgvs_p": "p.Gln601fs",
"transcript": "ENST00000864778.1",
"protein_id": "ENSP00000534837.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 640,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864778.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1783delC",
"hgvs_p": "p.Gln595fs",
"transcript": "ENST00000864798.1",
"protein_id": "ENSP00000534857.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 634,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864798.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1765delC",
"hgvs_p": "p.Gln589fs",
"transcript": "ENST00000864777.1",
"protein_id": "ENSP00000534836.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 628,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864777.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1765delC",
"hgvs_p": "p.Gln589fs",
"transcript": "ENST00000864790.1",
"protein_id": "ENSP00000534849.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 628,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864790.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1756delC",
"hgvs_p": "p.Gln586fs",
"transcript": "ENST00000864786.1",
"protein_id": "ENSP00000534845.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 625,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864786.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1717delC",
"hgvs_p": "p.Gln573fs",
"transcript": "ENST00000864785.1",
"protein_id": "ENSP00000534844.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 612,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864785.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1702delC",
"hgvs_p": "p.Gln568fs",
"transcript": "ENST00000912575.1",
"protein_id": "ENSP00000582634.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 607,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912575.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1687delC",
"hgvs_p": "p.Gln563fs",
"transcript": "ENST00000912576.1",
"protein_id": "ENSP00000582635.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 602,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912576.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1681delC",
"hgvs_p": "p.Gln561fs",
"transcript": "ENST00000864776.1",
"protein_id": "ENSP00000534835.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 600,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864776.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1678delC",
"hgvs_p": "p.Gln560fs",
"transcript": "ENST00000912572.1",
"protein_id": "ENSP00000582631.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912572.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1678delC",
"hgvs_p": "p.Gln560fs",
"transcript": "ENST00000952458.1",
"protein_id": "ENSP00000622517.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952458.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1657delC",
"hgvs_p": "p.Gln553fs",
"transcript": "ENST00000864781.1",
"protein_id": "ENSP00000534840.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 592,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864781.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1648delC",
"hgvs_p": "p.Gln550fs",
"transcript": "ENST00000864782.1",
"protein_id": "ENSP00000534841.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 589,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864782.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1630delC",
"hgvs_p": "p.Gln544fs",
"transcript": "ENST00000912571.1",
"protein_id": "ENSP00000582630.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 583,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912571.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "c.1612delC",
"hgvs_p": "p.Gln538fs",
"transcript": "ENST00000864797.1",
"protein_id": "ENSP00000534856.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 577,
"cds_start": 1612,
"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": "ENST00000864797.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 10,
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"feature": "ENST00000430730.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "GUSB",
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"transcript": "ENST00000447929.5",
"protein_id": "ENSP00000411262.1",
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"feature": "ENST00000447929.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "GUSB",
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"hgvs_c": "n.2224delC",
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"transcript": "ENST00000466883.5",
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"biotype": "retained_intron",
"feature": "ENST00000466883.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "GUSB",
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"hgvs_c": "n.1779delC",
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"transcript": "NR_120531.2",
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"biotype": "pseudogene",
"feature": "NR_120531.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.*1101delC",
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"protein_id": "ENSP00000411859.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430730.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"hgvs_c": "n.*1214delC",
"hgvs_p": null,
"transcript": "ENST00000447929.5",
"protein_id": "ENSP00000411262.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447929.5"
}
],
"gene_symbol": "GUSB",
"gene_hgnc_id": 4696,
"dbsnp": "rs1085307069",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.988,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000181.4",
"gene_symbol": "GUSB",
"hgnc_id": 4696,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1834delC",
"hgvs_p": "p.Gln612fs"
}
],
"clinvar_disease": "Mucopolysaccharidosis type 7",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Mucopolysaccharidosis type 7",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}