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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: 16-1362526-A-ACCCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1362526&ref=A&alt=ACCCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1362526,
"ref": "A",
"alt": "ACCCC",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_032520.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.604_607dupCCCC",
"hgvs_p": "p.Gln203fs",
"transcript": "NM_032520.5",
"protein_id": "NP_115909.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 305,
"cds_start": 608,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000204679.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032520.5"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.604_607dupCCCC",
"hgvs_p": "p.Gln203fs",
"transcript": "ENST00000204679.9",
"protein_id": "ENSP00000204679.4",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 305,
"cds_start": 608,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032520.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000204679.9"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.724_727dupCCCC",
"hgvs_p": "p.Gln243fs",
"transcript": "ENST00000891792.1",
"protein_id": "ENSP00000561851.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 345,
"cds_start": 728,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891792.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.688_691dupCCCC",
"hgvs_p": "p.Gln231fs",
"transcript": "ENST00000529110.2",
"protein_id": "ENSP00000435349.2",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529110.2"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.661_664dupCCCC",
"hgvs_p": "p.Gln222fs",
"transcript": "ENST00000891785.1",
"protein_id": "ENSP00000561844.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 324,
"cds_start": 665,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891785.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.652_655dupCCCC",
"hgvs_p": "p.Gln219fs",
"transcript": "ENST00000683887.1",
"protein_id": "ENSP00000506886.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 321,
"cds_start": 656,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683887.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.643_646dupCCCC",
"hgvs_p": "p.Gln216fs",
"transcript": "ENST00000947151.1",
"protein_id": "ENSP00000617210.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 318,
"cds_start": 647,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947151.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.604_607dupCCCC",
"hgvs_p": "p.Gln203fs",
"transcript": "ENST00000891787.1",
"protein_id": "ENSP00000561846.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 315,
"cds_start": 608,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891787.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.634_637dupCCCC",
"hgvs_p": "p.Gln213fs",
"transcript": "ENST00000891793.1",
"protein_id": "ENSP00000561852.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 315,
"cds_start": 638,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891793.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.589_592dupCCCC",
"hgvs_p": "p.Gln198fs",
"transcript": "ENST00000891789.1",
"protein_id": "ENSP00000561848.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 300,
"cds_start": 593,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891789.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.586_589dupCCCC",
"hgvs_p": "p.Gln197fs",
"transcript": "ENST00000891784.1",
"protein_id": "ENSP00000561843.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 299,
"cds_start": 590,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891784.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.604_607dupCCCC",
"hgvs_p": "p.Gln203fs",
"transcript": "ENST00000891788.1",
"protein_id": "ENSP00000561847.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 287,
"cds_start": 608,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891788.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.520_523dupCCCC",
"hgvs_p": "p.Gln175fs",
"transcript": "ENST00000891790.1",
"protein_id": "ENSP00000561849.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 277,
"cds_start": 524,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891790.1"
},
{
"aa_ref": "Q",
"aa_alt": "PP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.478_481dupCCCC",
"hgvs_p": "p.Gln161fs",
"transcript": "ENST00000891791.1",
"protein_id": "ENSP00000561850.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 263,
"cds_start": 482,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891791.1"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.570+34_570+37dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000891786.1",
"protein_id": "ENSP00000561845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891786.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "c.412-82_412-79dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000928980.1",
"protein_id": "ENSP00000599039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.1751_1754dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000527076.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000527076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.703_706dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000527168.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000527168.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.662_665dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000529957.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000529957.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.*336_*339dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000683366.1",
"protein_id": "ENSP00000507283.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000683366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.598_601dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000684100.1",
"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": "retained_intron",
"feature": "ENST00000684100.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.662_665dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000684126.1",
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"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,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684126.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.1229_1232dupCCCC",
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"transcript": "ENST00000684688.1",
"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": "retained_intron",
"feature": "ENST00000684688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"hgvs_c": "n.*336_*339dupCCCC",
"hgvs_p": null,
"transcript": "ENST00000683366.1",
"protein_id": "ENSP00000507283.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000683366.1"
}
],
"gene_symbol": "GNPTG",
"gene_hgnc_id": 23026,
"dbsnp": "rs756225251",
"frequency_reference_population": 6.840759e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84076e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.215,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_032520.5",
"gene_symbol": "GNPTG",
"hgnc_id": 23026,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.604_607dupCCCC",
"hgvs_p": "p.Gln203fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}