← Back to variant description
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: 3-138570379-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138570379&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CEP70",
"hgnc_id": 29972,
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001320599.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1128,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25979503989219666,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_024491.4",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264982.8",
"protein_coding": true,
"protein_id": "NP_077817.2",
"strand": false,
"transcript": "NM_024491.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000264982.8",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024491.4",
"protein_coding": true,
"protein_id": "ENSP00000264982.3",
"strand": false,
"transcript": "ENST00000264982.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 554,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1665,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000481834.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417465.1",
"strand": false,
"transcript": "ENST00000481834.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 212,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 564,
"cds_end": null,
"cds_length": 639,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000464035.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419743.1",
"strand": false,
"transcript": "ENST00000464035.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 617,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1854,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882531.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552590.1",
"strand": false,
"transcript": "ENST00000882531.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 598,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1797,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320599.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307528.1",
"strand": false,
"transcript": "NM_001320599.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320598.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307527.1",
"strand": false,
"transcript": "NM_001320598.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000484888.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419231.1",
"strand": false,
"transcript": "ENST00000484888.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882532.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552591.1",
"strand": false,
"transcript": "ENST00000882532.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882534.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552593.1",
"strand": false,
"transcript": "ENST00000882534.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882535.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552594.1",
"strand": false,
"transcript": "ENST00000882535.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000923052.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593111.1",
"strand": false,
"transcript": "ENST00000923052.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923053.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593112.1",
"strand": false,
"transcript": "ENST00000923053.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3204,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968169.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638228.1",
"strand": false,
"transcript": "ENST00000968169.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 597,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1794,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968170.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638229.1",
"strand": false,
"transcript": "ENST00000968170.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 596,
"aa_ref": "S",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1791,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923048.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.401G>T",
"hgvs_p": "p.Ser134Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593107.1",
"strand": false,
"transcript": "ENST00000923048.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 596,
"aa_ref": "S",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 569,
"cds_end": null,
"cds_length": 1791,
"cds_start": 401,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923049.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.401G>T",
"hgvs_p": "p.Ser134Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593108.1",
"strand": false,
"transcript": "ENST00000923049.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 579,
"aa_ref": "S",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1740,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001288964.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.350G>T",
"hgvs_p": "p.Ser117Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275893.1",
"strand": false,
"transcript": "NM_001288964.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 579,
"aa_ref": "S",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1740,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000474781.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.350G>T",
"hgvs_p": "p.Ser117Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419833.1",
"strand": false,
"transcript": "ENST00000474781.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1737,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000923054.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593113.1",
"strand": false,
"transcript": "ENST00000923054.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 577,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 501,
"cds_end": null,
"cds_length": 1734,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001288965.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.344G>T",
"hgvs_p": "p.Ser115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275894.1",
"strand": false,
"transcript": "NM_001288965.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 554,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1665,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001288966.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275895.1",
"strand": false,
"transcript": "NM_001288966.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 548,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1647,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882528.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552587.1",
"strand": false,
"transcript": "ENST00000882528.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 548,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1647,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882530.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552589.1",
"strand": false,
"transcript": "ENST00000882530.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 489,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1470,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923051.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593110.1",
"strand": false,
"transcript": "ENST00000923051.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 402,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1209,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882529.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552588.1",
"strand": false,
"transcript": "ENST00000882529.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 345,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1038,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000923050.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593109.1",
"strand": false,
"transcript": "ENST00000923050.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 292,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": 476,
"cds_end": null,
"cds_length": 881,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000468900.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.341G>T",
"hgvs_p": "p.Ser114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418131.2",
"strand": false,
"transcript": "ENST00000468900.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": 586,
"cds_end": null,
"cds_length": 779,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000462419.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.344G>T",
"hgvs_p": "p.Ser115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417819.1",
"strand": false,
"transcript": "ENST00000462419.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 212,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 564,
"cds_end": null,
"cds_length": 639,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320600.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307529.1",
"strand": false,
"transcript": "NM_001320600.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 632,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1899,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017007271.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862760.1",
"strand": false,
"transcript": "XM_017007271.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 632,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1899,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453780.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309548.1",
"strand": false,
"transcript": "XM_024453780.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 632,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1899,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047449017.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304973.1",
"strand": false,
"transcript": "XM_047449017.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 612,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 501,
"cds_end": null,
"cds_length": 1839,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017007273.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.344G>T",
"hgvs_p": "p.Ser115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862762.1",
"strand": false,
"transcript": "XM_017007273.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 612,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1839,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017007274.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.344G>T",
"hgvs_p": "p.Ser115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862763.1",
"strand": false,
"transcript": "XM_017007274.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 598,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2373,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1797,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453781.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309549.1",
"strand": false,
"transcript": "XM_024453781.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 578,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 501,
"cds_end": null,
"cds_length": 1737,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047449019.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.344G>T",
"hgvs_p": "p.Ser115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304975.1",
"strand": false,
"transcript": "XM_047449019.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 577,
"aa_ref": "S",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1734,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047449020.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.344G>T",
"hgvs_p": "p.Ser115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304976.1",
"strand": false,
"transcript": "XM_047449020.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 223,
"cds_end": null,
"cds_length": 1545,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017007276.3",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Ser17Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862765.1",
"strand": false,
"transcript": "XM_017007276.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 420,
"aa_ref": "S",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4072,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1263,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011513209.4",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.404G>T",
"hgvs_p": "p.Ser135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511511.1",
"strand": false,
"transcript": "XM_011513209.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 456,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047449021.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.-224G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304977.1",
"strand": false,
"transcript": "XM_047449021.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001288967.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.9+21475G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275896.1",
"strand": false,
"transcript": "NM_001288967.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000489254.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.9+21475G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417821.1",
"strand": false,
"transcript": "ENST00000489254.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 431,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": null,
"cds_end": null,
"cds_length": 1296,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882533.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.284+655G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552592.1",
"strand": false,
"transcript": "ENST00000882533.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 480,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007277.2",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.9+21475G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862766.1",
"strand": false,
"transcript": "XM_017007277.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 446,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": null,
"cds_end": null,
"cds_length": 1341,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449022.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.9+21475G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304978.1",
"strand": false,
"transcript": "XM_047449022.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449023.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.9+21475G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304979.1",
"strand": false,
"transcript": "XM_047449023.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000478673.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "n.569G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000478673.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 373,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": null,
"cds_end": null,
"cds_length": 1122,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449025.1",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.-204G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304981.1",
"strand": true,
"transcript": "XM_047449025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": 348,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470159.5",
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"hgvs_c": "c.*56G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419817.1",
"strand": true,
"transcript": "ENST00000470159.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1673607",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29972,
"gene_symbol": "CEP70",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.194,
"pos": 138570379,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.059,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001320599.2"
}
]
}