← 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: 3-138500224-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138500224&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138500224,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001320599.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "NM_024491.4",
"protein_id": "NP_077817.2",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264982.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024491.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000264982.8",
"protein_id": "ENSP00000264982.3",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024491.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264982.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000481834.5",
"protein_id": "ENSP00000417465.1",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 554,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481834.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1598A>G",
"hgvs_p": "p.Asp533Gly",
"transcript": "ENST00000882531.1",
"protein_id": "ENSP00000552590.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 617,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882531.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "NM_001320599.2",
"protein_id": "NP_001307528.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320599.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "NM_001320598.2",
"protein_id": "NP_001307527.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320598.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000484888.5",
"protein_id": "ENSP00000419231.1",
"transcript_support_level": 5,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484888.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000882532.1",
"protein_id": "ENSP00000552591.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882532.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000882534.1",
"protein_id": "ENSP00000552593.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882534.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000882535.1",
"protein_id": "ENSP00000552594.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882535.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000923052.1",
"protein_id": "ENSP00000593111.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923052.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000923053.1",
"protein_id": "ENSP00000593112.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923053.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000968169.1",
"protein_id": "ENSP00000638228.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968169.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "ENST00000968170.1",
"protein_id": "ENSP00000638229.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 597,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968170.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1535A>G",
"hgvs_p": "p.Asp512Gly",
"transcript": "ENST00000923048.1",
"protein_id": "ENSP00000593107.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 596,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923048.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1535A>G",
"hgvs_p": "p.Asp512Gly",
"transcript": "ENST00000923049.1",
"protein_id": "ENSP00000593108.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 596,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923049.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Asp495Gly",
"transcript": "NM_001288964.2",
"protein_id": "NP_001275893.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 579,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288964.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1484A>G",
"hgvs_p": "p.Asp495Gly",
"transcript": "ENST00000474781.5",
"protein_id": "ENSP00000419833.1",
"transcript_support_level": 2,
"aa_start": 495,
"aa_end": null,
"aa_length": 579,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474781.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Asp494Gly",
"transcript": "ENST00000923054.1",
"protein_id": "ENSP00000593113.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 578,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923054.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "NM_001288965.2",
"protein_id": "NP_001275894.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 577,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288965.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "NM_001288966.2",
"protein_id": "NP_001275895.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 554,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288966.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Asp464Gly",
"transcript": "ENST00000882528.1",
"protein_id": "ENSP00000552587.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 548,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882528.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Asp464Gly",
"transcript": "ENST00000882530.1",
"protein_id": "ENSP00000552589.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 548,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882530.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000923051.1",
"protein_id": "ENSP00000593110.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 489,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923051.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Asp361Gly",
"transcript": "NM_001288967.2",
"protein_id": "NP_001275896.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 445,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288967.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Asp361Gly",
"transcript": "ENST00000489254.5",
"protein_id": "ENSP00000417821.1",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 445,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489254.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Asp347Gly",
"transcript": "ENST00000882533.1",
"protein_id": "ENSP00000552592.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 431,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882533.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Asp318Gly",
"transcript": "ENST00000882529.1",
"protein_id": "ENSP00000552588.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 402,
"cds_start": 953,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882529.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Asp261Gly",
"transcript": "ENST00000923050.1",
"protein_id": "ENSP00000593109.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 345,
"cds_start": 782,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923050.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "XM_017007271.2",
"protein_id": "XP_016862760.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 632,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007271.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "XM_024453780.2",
"protein_id": "XP_024309548.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 632,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453780.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "XM_047449017.1",
"protein_id": "XP_047304973.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 632,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449017.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_017007273.2",
"protein_id": "XP_016862762.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 612,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007273.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_017007274.2",
"protein_id": "XP_016862763.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 612,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007274.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly",
"transcript": "XM_024453781.2",
"protein_id": "XP_024309549.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453781.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_047449019.1",
"protein_id": "XP_047304975.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 578,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449019.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1478A>G",
"hgvs_p": "p.Asp493Gly",
"transcript": "XM_047449020.1",
"protein_id": "XP_047304976.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 577,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449020.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Asp395Gly",
"transcript": "XM_017007276.3",
"protein_id": "XP_016862765.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 514,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007276.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Asp361Gly",
"transcript": "XM_017007277.2",
"protein_id": "XP_016862766.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 480,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007277.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.Asp337Gly",
"transcript": "XM_047449021.1",
"protein_id": "XP_047304977.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 456,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449021.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Asp361Gly",
"transcript": "XM_047449022.1",
"protein_id": "XP_047304978.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 446,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449022.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1082A>G",
"hgvs_p": "p.Asp361Gly",
"transcript": "XM_047449023.1",
"protein_id": "XP_047304979.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 445,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449023.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.860A>G",
"hgvs_p": "p.Asp287Gly",
"transcript": "XM_047449024.1",
"protein_id": "XP_047304980.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 406,
"cds_start": 860,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449024.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.761A>G",
"hgvs_p": "p.Asp254Gly",
"transcript": "XM_017007281.3",
"protein_id": "XP_016862770.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 373,
"cds_start": 761,
"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": "XM_017007281.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.761A>G",
"hgvs_p": "p.Asp254Gly",
"transcript": "XM_047449025.1",
"protein_id": "XP_047304981.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 373,
"cds_start": 761,
"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": "XM_047449025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.-44A>G",
"hgvs_p": null,
"transcript": "ENST00000459695.1",
"protein_id": "ENSP00000418552.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459695.1"
}
],
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"dbsnp": "rs144294583",
"frequency_reference_population": 0.000023740653,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000241665,
"gnomad_genomes_af": 0.000019692,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7256333231925964,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6420000195503235,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.2601,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.715,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.537733275607933,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001320599.2",
"gene_symbol": "CEP70",
"hgnc_id": 29972,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1538A>G",
"hgvs_p": "p.Asp513Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}