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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: 8-67179871-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67179871&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 67179871,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000678616.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3165T>C",
"hgvs_p": "p.Asp1055Asp",
"transcript": "NM_001382391.1",
"protein_id": "NP_001369320.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3165,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": "ENST00000678616.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3165T>C",
"hgvs_p": "p.Asp1055Asp",
"transcript": "ENST00000678616.1",
"protein_id": "ENSP00000504733.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3165,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": "NM_001382391.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3231T>C",
"hgvs_p": "p.Asp1077Asp",
"transcript": "ENST00000262210.11",
"protein_id": "ENSP00000262210.6",
"transcript_support_level": 1,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3290,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2115T>C",
"hgvs_p": "p.Asp705Asp",
"transcript": "ENST00000519668.1",
"protein_id": "ENSP00000430092.1",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 876,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "n.1155T>C",
"hgvs_p": null,
"transcript": "ENST00000521168.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3273T>C",
"hgvs_p": "p.Asp1091Asp",
"transcript": "ENST00000676605.1",
"protein_id": "ENSP00000503605.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3273,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3310,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3273T>C",
"hgvs_p": "p.Asp1091Asp",
"transcript": "ENST00000678542.1",
"protein_id": "ENSP00000503878.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3273,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3310,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3255T>C",
"hgvs_p": "p.Asp1085Asp",
"transcript": "ENST00000674993.1",
"protein_id": "ENSP00000502454.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1256,
"cds_start": 3255,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 3286,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3231T>C",
"hgvs_p": "p.Asp1077Asp",
"transcript": "NM_001364869.1",
"protein_id": "NP_001351798.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3231,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3150T>C",
"hgvs_p": "p.Asp1050Asp",
"transcript": "NM_024790.7",
"protein_id": "NP_079066.5",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3157,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3150T>C",
"hgvs_p": "p.Asp1050Asp",
"transcript": "ENST00000676317.1",
"protein_id": "ENSP00000502047.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1221,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3144T>C",
"hgvs_p": "p.Asp1048Asp",
"transcript": "ENST00000676847.1",
"protein_id": "ENSP00000503336.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3144,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3132T>C",
"hgvs_p": "p.Asp1044Asp",
"transcript": "ENST00000677592.1",
"protein_id": "ENSP00000504516.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 3163,
"cdna_end": null,
"cdna_length": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3123T>C",
"hgvs_p": "p.Asp1041Asp",
"transcript": "ENST00000676113.1",
"protein_id": "ENSP00000501645.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3123,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3084T>C",
"hgvs_p": "p.Asp1028Asp",
"transcript": "NM_001363131.2",
"protein_id": "NP_001350060.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3241,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3084T>C",
"hgvs_p": "p.Asp1028Asp",
"transcript": "ENST00000675955.1",
"protein_id": "ENSP00000501676.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3051T>C",
"hgvs_p": "p.Asp1017Asp",
"transcript": "NM_001364870.1",
"protein_id": "NP_001351799.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3051,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3058,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3051T>C",
"hgvs_p": "p.Asp1017Asp",
"transcript": "ENST00000676882.1",
"protein_id": "ENSP00000504342.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3051,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.3042T>C",
"hgvs_p": "p.Asp1014Asp",
"transcript": "ENST00000678645.1",
"protein_id": "ENSP00000504031.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1185,
"cds_start": 3042,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2997T>C",
"hgvs_p": "p.Asp999Asp",
"transcript": "NM_001438330.1",
"protein_id": "NP_001425259.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2997,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 3004,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2970T>C",
"hgvs_p": "p.Asp990Asp",
"transcript": "NM_001363132.2",
"protein_id": "NP_001350061.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2970,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2970T>C",
"hgvs_p": "p.Asp990Asp",
"transcript": "ENST00000675869.1",
"protein_id": "ENSP00000502747.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2970,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"transcript": "ENST00000520381.5",
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"aa_end": null,
"aa_length": 1278,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
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"gene_symbol": "CSPP1",
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"hgvs_c": "c.2833+4435T>C",
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"transcript": "ENST00000679226.1",
"protein_id": "ENSP00000503601.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 26,
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"gene_symbol": "CSPP1",
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"hgvs_c": "c.3141+2145T>C",
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"transcript": "ENST00000677009.1",
"protein_id": "ENSP00000503297.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "ARFGEF1",
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"hgvs_c": "c.559-4299A>G",
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"transcript": "ENST00000518789.5",
"protein_id": "ENSP00000429560.2",
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_length": 646,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"dbsnp": "rs10112748",
"frequency_reference_population": 0.0035323326,
"hom_count_reference_population": 8,
"allele_count_reference_population": 5634,
"gnomad_exomes_af": 0.00367569,
"gnomad_genomes_af": 0.00217394,
"gnomad_exomes_ac": 5303,
"gnomad_genomes_ac": 331,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.247,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000678616.1",
"gene_symbol": "CSPP1",
"hgnc_id": 26193,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3165T>C",
"hgvs_p": "p.Asp1055Asp"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001413187.1",
"gene_symbol": "ARFGEF1",
"hgnc_id": 15772,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.5386-4299A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Joubert syndrome 21,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|Joubert syndrome 21|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}