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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: 10-101030053-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101030053&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101030053,
"ref": "C",
"alt": "CG",
"effect": "frameshift_variant",
"transcript": "NM_001195263.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "NM_001195263.2",
"protein_id": "NP_001182192.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1033,
"cds_start": 166,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619208.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195263.2"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "ENST00000619208.6",
"protein_id": "ENSP00000480489.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 1033,
"cds_start": 166,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195263.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619208.6"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "NM_001437429.1",
"protein_id": "NP_001424358.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1032,
"cds_start": 166,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437429.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "ENST00000912190.1",
"protein_id": "ENSP00000582249.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1032,
"cds_start": 166,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912190.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "ENST00000645349.1",
"protein_id": "ENSP00000495283.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 573,
"cds_start": 166,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645349.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "ENST00000644782.1",
"protein_id": "ENSP00000496747.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 561,
"cds_start": 166,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644782.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "NM_001351044.2",
"protein_id": "NP_001337973.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 539,
"cds_start": 166,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351044.2"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "NM_024895.5",
"protein_id": "NP_079171.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 517,
"cds_start": 166,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024895.5"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "ENST00000370215.7",
"protein_id": "ENSP00000359234.3",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 517,
"cds_start": 166,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370215.7"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "ENST00000644576.1",
"protein_id": "ENSP00000495417.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 61,
"cds_start": 166,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644576.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_011540177.4",
"protein_id": "XP_011538479.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1033,
"cds_start": 166,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540177.4"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_047425767.1",
"protein_id": "XP_047281723.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1033,
"cds_start": 166,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425767.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_047425768.1",
"protein_id": "XP_047281724.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 697,
"cds_start": 166,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425768.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_011540179.4",
"protein_id": "XP_011538481.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 677,
"cds_start": 166,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540179.4"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_017016667.3",
"protein_id": "XP_016872156.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 573,
"cds_start": 166,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016667.3"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_047425769.1",
"protein_id": "XP_047281725.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 573,
"cds_start": 166,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425769.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_005270165.4",
"protein_id": "XP_005270222.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 561,
"cds_start": 166,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270165.4"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_011540181.4",
"protein_id": "XP_011538483.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 544,
"cds_start": 166,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540181.4"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_011540183.4",
"protein_id": "XP_011538485.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 533,
"cds_start": 166,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540183.4"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_017016668.3",
"protein_id": "XP_016872157.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 528,
"cds_start": 166,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016668.3"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs",
"transcript": "XM_047425771.1",
"protein_id": "XP_047281727.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 517,
"cds_start": 166,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "n.373dupC",
"hgvs_p": null,
"transcript": "ENST00000470414.1",
"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": "ENST00000470414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "n.166dupC",
"hgvs_p": null,
"transcript": "ENST00000474125.7",
"protein_id": "ENSP00000474447.1",
"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": "ENST00000474125.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "n.388dupC",
"hgvs_p": null,
"transcript": "XR_945816.4",
"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_945816.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.*8dupC",
"hgvs_p": null,
"transcript": "ENST00000646029.1",
"protein_id": "ENSP00000493998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": null,
"cds_end": null,
"cds_length": 158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"hgvs_c": "c.*124dupC",
"hgvs_p": null,
"transcript": "ENST00000642474.1",
"protein_id": "ENSP00000495531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": null,
"cds_end": null,
"cds_length": 42,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642474.1"
}
],
"gene_symbol": "PDZD7",
"gene_hgnc_id": 26257,
"dbsnp": "rs587776894",
"frequency_reference_population": 0.000045240344,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000437907,
"gnomad_genomes_af": 0.0000591693,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 3.828,
"phylop100way_prediction": "Uncertain_significance",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001195263.2",
"gene_symbol": "PDZD7",
"hgnc_id": 26257,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.166dupC",
"hgvs_p": "p.Arg56fs"
}
],
"clinvar_disease": " autosomal recessive, autosomal recessive 57,Hearing loss,Usher syndrome type 2A,Usher syndrome type 2C,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Usher syndrome type 2A|not provided|Hearing loss, autosomal recessive 57|Hearing loss, autosomal recessive|Usher syndrome type 2C",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}