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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: 21-32602299-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32602299&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32602299,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_021254.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.735C>G",
"hgvs_p": "p.Tyr245*",
"transcript": "NM_021254.4",
"protein_id": "NP_067077.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 290,
"cds_start": 735,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290155.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021254.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.735C>G",
"hgvs_p": "p.Tyr245*",
"transcript": "ENST00000290155.8",
"protein_id": "ENSP00000290155.3",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 290,
"cds_start": 735,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021254.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290155.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.*790C>G",
"hgvs_p": null,
"transcript": "ENST00000382549.8",
"protein_id": "ENSP00000371989.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382549.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.666+862C>G",
"hgvs_p": null,
"transcript": "ENST00000673807.1",
"protein_id": "ENSP00000501088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": null,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673807.1"
},
{
"aa_ref": "Y",
"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": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.831C>G",
"hgvs_p": "p.Tyr277*",
"transcript": "ENST00000877680.1",
"protein_id": "ENSP00000547739.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 322,
"cds_start": 831,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877680.1"
},
{
"aa_ref": "Y",
"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": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.828C>G",
"hgvs_p": "p.Tyr276*",
"transcript": "ENST00000926992.1",
"protein_id": "ENSP00000597051.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 321,
"cds_start": 828,
"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": "ENST00000926992.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.822C>G",
"hgvs_p": "p.Tyr274*",
"transcript": "ENST00000877679.1",
"protein_id": "ENSP00000547738.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 319,
"cds_start": 822,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877679.1"
},
{
"aa_ref": "Y",
"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": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.786C>G",
"hgvs_p": "p.Tyr262*",
"transcript": "ENST00000926995.1",
"protein_id": "ENSP00000597054.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 307,
"cds_start": 786,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926995.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.771C>G",
"hgvs_p": "p.Tyr257*",
"transcript": "ENST00000926993.1",
"protein_id": "ENSP00000597052.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 302,
"cds_start": 771,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926993.1"
},
{
"aa_ref": "Y",
"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": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.636C>G",
"hgvs_p": "p.Tyr212*",
"transcript": "ENST00000431216.5",
"protein_id": "ENSP00000391771.1",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 295,
"cds_start": 636,
"cds_end": null,
"cds_length": 889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431216.5"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.726C>G",
"hgvs_p": "p.Tyr242*",
"transcript": "ENST00000926990.1",
"protein_id": "ENSP00000597049.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 287,
"cds_start": 726,
"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": "ENST00000926990.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.735C>G",
"hgvs_p": "p.Tyr245*",
"transcript": "NM_001350337.2",
"protein_id": "NP_001337266.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 269,
"cds_start": 735,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350337.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.567C>G",
"hgvs_p": "p.Tyr189*",
"transcript": "ENST00000877678.1",
"protein_id": "ENSP00000547737.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 234,
"cds_start": 567,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877678.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.438C>G",
"hgvs_p": "p.Tyr146*",
"transcript": "NM_001350334.2",
"protein_id": "NP_001337263.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 191,
"cds_start": 438,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350334.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Tyr97*",
"transcript": "ENST00000877681.1",
"protein_id": "ENSP00000547740.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 142,
"cds_start": 291,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877681.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.276C>G",
"hgvs_p": "p.Tyr92*",
"transcript": "ENST00000425336.1",
"protein_id": "ENSP00000407362.1",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 116,
"cds_start": 276,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.*790C>G",
"hgvs_p": null,
"transcript": "NM_001350335.2",
"protein_id": "NP_001337264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350335.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.666+862C>G",
"hgvs_p": null,
"transcript": "NM_001350338.2",
"protein_id": "NP_001337267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": null,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350338.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.666+862C>G",
"hgvs_p": null,
"transcript": "ENST00000673985.1",
"protein_id": "ENSP00000500984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.666+862C>G",
"hgvs_p": null,
"transcript": "ENST00000673945.1",
"protein_id": "ENSP00000501020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.763-326C>G",
"hgvs_p": null,
"transcript": "ENST00000926989.1",
"protein_id": "ENSP00000597048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.667-326C>G",
"hgvs_p": null,
"transcript": "NM_001350336.2",
"protein_id": "NP_001337265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350336.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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"protein_coding": false,
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],
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{
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"strand": false,
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"gene_symbol": "CFAP298-TCP10L",
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{
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"gene_symbol": "CFAP298-TCP10L",
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"transcript": "NR_146638.2",
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"biotype": "pseudogene",
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{
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"gene_symbol": "CFAP298-TCP10L",
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"biotype": "pseudogene",
"feature": "NR_146639.2"
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],
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"dbsnp": "rs202094637",
"frequency_reference_population": 0.0000570035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 92,
"gnomad_exomes_af": 0.0000581511,
"gnomad_genomes_af": 0.0000459843,
"gnomad_exomes_ac": 85,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32899999618530273,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.329,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.249,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_021254.4",
"gene_symbol": "CFAP298",
"hgnc_id": 1301,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.735C>G",
"hgvs_p": "p.Tyr245*"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001350338.2",
"gene_symbol": "CFAP298-TCP10L",
"hgnc_id": 54636,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.666+862C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Primary ciliary dyskinesia 26,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Primary ciliary dyskinesia 26|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}