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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: X-149490322-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=149490322&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 149490322,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_000202.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.998C>A",
"hgvs_p": "p.Ser333*",
"transcript": "NM_000202.8",
"protein_id": "NP_000193.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 550,
"cds_start": 998,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340855.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000202.8"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.998C>A",
"hgvs_p": "p.Ser333*",
"transcript": "ENST00000340855.11",
"protein_id": "ENSP00000339801.6",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 550,
"cds_start": 998,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000202.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340855.11"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.998C>A",
"hgvs_p": "p.Ser333*",
"transcript": "ENST00000370441.8",
"protein_id": "ENSP00000359470.4",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 343,
"cds_start": 998,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370441.8"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000241489",
"gene_hgnc_id": null,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ser122*",
"transcript": "ENST00000651111.1",
"protein_id": "ENSP00000498395.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 339,
"cds_start": 365,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "n.*189C>A",
"hgvs_p": null,
"transcript": "ENST00000466323.5",
"protein_id": "ENSP00000418264.1",
"transcript_support_level": 1,
"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": "ENST00000466323.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "n.*189C>A",
"hgvs_p": null,
"transcript": "ENST00000466323.5",
"protein_id": "ENSP00000418264.1",
"transcript_support_level": 1,
"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": "ENST00000466323.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1079C>A",
"hgvs_p": "p.Ser360*",
"transcript": "ENST00000875674.1",
"protein_id": "ENSP00000545733.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 577,
"cds_start": 1079,
"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": "ENST00000875674.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1058C>A",
"hgvs_p": "p.Ser353*",
"transcript": "ENST00000875673.1",
"protein_id": "ENSP00000545732.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 570,
"cds_start": 1058,
"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": "ENST00000875673.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1043C>A",
"hgvs_p": "p.Ser348*",
"transcript": "ENST00000875670.1",
"protein_id": "ENSP00000545729.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 565,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875670.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.998C>A",
"hgvs_p": "p.Ser333*",
"transcript": "ENST00000947400.1",
"protein_id": "ENSP00000617459.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 565,
"cds_start": 998,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947400.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.989C>A",
"hgvs_p": "p.Ser330*",
"transcript": "ENST00000875672.1",
"protein_id": "ENSP00000545731.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 547,
"cds_start": 989,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875672.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1058C>A",
"hgvs_p": "p.Ser353*",
"transcript": "ENST00000947401.1",
"protein_id": "ENSP00000617460.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 512,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947401.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1043C>A",
"hgvs_p": "p.Ser348*",
"transcript": "ENST00000875668.1",
"protein_id": "ENSP00000545727.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 507,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875668.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.1031C>A",
"hgvs_p": "p.Ser344*",
"transcript": "ENST00000875669.1",
"protein_id": "ENSP00000545728.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 503,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875669.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.998C>A",
"hgvs_p": "p.Ser333*",
"transcript": "ENST00000875667.1",
"protein_id": "ENSP00000545726.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 492,
"cds_start": 998,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875667.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Ser266*",
"transcript": "ENST00000930297.1",
"protein_id": "ENSP00000600356.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 483,
"cds_start": 797,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930297.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.788C>A",
"hgvs_p": "p.Ser263*",
"transcript": "ENST00000930298.1",
"protein_id": "ENSP00000600357.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 480,
"cds_start": 788,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930298.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.728C>A",
"hgvs_p": "p.Ser243*",
"transcript": "NM_001166550.4",
"protein_id": "NP_001160022.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 460,
"cds_start": 728,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166550.4"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.683C>A",
"hgvs_p": "p.Ser228*",
"transcript": "ENST00000875671.1",
"protein_id": "ENSP00000545730.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 445,
"cds_start": 683,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875671.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "c.998C>A",
"hgvs_p": "p.Ser333*",
"transcript": "NM_006123.5",
"protein_id": "NP_006114.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 343,
"cds_start": 998,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006123.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000241489",
"gene_hgnc_id": null,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ser122*",
"transcript": "ENST00000422081.6",
"protein_id": "ENSP00000477056.1",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 339,
"cds_start": 365,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422081.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"hgvs_c": "n.*603C>A",
"hgvs_p": null,
"transcript": "ENST00000464251.5",
"protein_id": "ENSP00000428980.1",
"transcript_support_level": 5,
"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": "ENST00000464251.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"transcript": "ENST00000490775.5",
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"transcript_support_level": 3,
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"biotype": "pseudogene",
"feature": "ENST00000490775.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 9,
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"gene_symbol": "IDS",
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"hgvs_c": "n.1297C>A",
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"transcript": "NR_104128.2",
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"biotype": "pseudogene",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 8,
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"gene_symbol": "IDS",
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"hgvs_c": "n.*603C>A",
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"transcript": "ENST00000464251.5",
"protein_id": "ENSP00000428980.1",
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"aa_length": null,
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"cds_end": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464251.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000241489",
"gene_hgnc_id": null,
"hgvs_c": "n.114-3224C>A",
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"transcript": "ENST00000441880.1",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000441880.1"
}
],
"gene_symbol": "IDS",
"gene_hgnc_id": 5389,
"dbsnp": "rs104894853",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.550000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.207,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000202.8",
"gene_symbol": "IDS",
"hgnc_id": 5389,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.998C>A",
"hgvs_p": "p.Ser333*"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000651111.1",
"gene_symbol": "ENSG00000241489",
"hgnc_id": null,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ser122*"
}
],
"clinvar_disease": " MPS-II,Mucopolysaccharidosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Mucopolysaccharidosis, MPS-II",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}