← 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: 11-74139608-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=74139608&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 74139608,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000334126.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "NM_001286577.2",
"protein_id": "NP_001273506.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 2353,
"cds_start": 704,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 7939,
"mane_select": "ENST00000334126.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000334126.12",
"protein_id": "ENSP00000334379.7",
"transcript_support_level": 5,
"aa_start": 235,
"aa_end": null,
"aa_length": 2353,
"cds_start": 704,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 7939,
"mane_select": "NM_001286577.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000414160.7",
"protein_id": "ENSP00000388750.3",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 1968,
"cds_start": 704,
"cds_end": null,
"cds_length": 5907,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000313663.11",
"protein_id": "ENSP00000323339.7",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 1963,
"cds_start": 704,
"cds_end": null,
"cds_length": 5892,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000680231.1",
"protein_id": "ENSP00000505413.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 2308,
"cds_start": 704,
"cds_end": null,
"cds_length": 6927,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 6977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000679906.1",
"protein_id": "ENSP00000505021.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 2301,
"cds_start": 704,
"cds_end": null,
"cds_length": 6906,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000681143.1",
"protein_id": "ENSP00000505970.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 2218,
"cds_start": 704,
"cds_end": null,
"cds_length": 6657,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "NM_015531.6",
"protein_id": "NP_056346.3",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1963,
"cds_start": 704,
"cds_end": null,
"cds_length": 5892,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000681310.1",
"protein_id": "ENSP00000506236.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 1938,
"cds_start": 704,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000538361.2",
"protein_id": "ENSP00000441742.2",
"transcript_support_level": 3,
"aa_start": 235,
"aa_end": null,
"aa_length": 1937,
"cds_start": 704,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 6163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000680718.1",
"protein_id": "ENSP00000505340.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 506,
"cds_start": 704,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000539061.6",
"protein_id": "ENSP00000445933.2",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 417,
"cds_start": 704,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu",
"transcript": "ENST00000680645.1",
"protein_id": "ENSP00000506347.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 406,
"cds_start": 704,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.869C>T",
"hgvs_p": null,
"transcript": "ENST00000415191.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.704C>T",
"hgvs_p": null,
"transcript": "ENST00000442398.7",
"protein_id": "ENSP00000404577.3",
"transcript_support_level": 2,
"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": 7683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000679415.1",
"protein_id": "ENSP00000505672.1",
"transcript_support_level": null,
"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": 7670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.622C>T",
"hgvs_p": null,
"transcript": "ENST00000680173.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.775C>T",
"hgvs_p": null,
"transcript": "ENST00000680306.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.704C>T",
"hgvs_p": null,
"transcript": "ENST00000680665.1",
"protein_id": "ENSP00000505527.1",
"transcript_support_level": null,
"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": 7977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000680839.1",
"protein_id": "ENSP00000506002.1",
"transcript_support_level": null,
"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": 7289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.973C>T",
"hgvs_p": null,
"transcript": "ENST00000681000.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000681291.1",
"protein_id": "ENSP00000505182.1",
"transcript_support_level": null,
"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": 7767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000681385.1",
"protein_id": "ENSP00000505069.1",
"transcript_support_level": null,
"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": 7361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.704C>T",
"hgvs_p": null,
"transcript": "ENST00000681609.1",
"protein_id": "ENSP00000505133.1",
"transcript_support_level": null,
"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": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.704C>T",
"hgvs_p": null,
"transcript": "ENST00000681811.1",
"protein_id": "ENSP00000506315.1",
"transcript_support_level": null,
"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": 7614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.704C>T",
"hgvs_p": null,
"transcript": "ENST00000681829.1",
"protein_id": "ENSP00000505375.1",
"transcript_support_level": null,
"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": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.704C>T",
"hgvs_p": null,
"transcript": "ENST00000681924.1",
"protein_id": "ENSP00000505101.1",
"transcript_support_level": null,
"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": 7808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000679415.1",
"protein_id": "ENSP00000505672.1",
"transcript_support_level": null,
"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": 7670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000680839.1",
"protein_id": "ENSP00000506002.1",
"transcript_support_level": null,
"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": 7289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000681291.1",
"protein_id": "ENSP00000505182.1",
"transcript_support_level": null,
"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": 7767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*156C>T",
"hgvs_p": null,
"transcript": "ENST00000681385.1",
"protein_id": "ENSP00000505069.1",
"transcript_support_level": null,
"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": 7361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"hgvs_c": "n.*339C>T",
"hgvs_p": null,
"transcript": "ENST00000681345.1",
"protein_id": "ENSP00000504924.1",
"transcript_support_level": null,
"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": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C2CD3",
"gene_hgnc_id": 24564,
"dbsnp": "rs149910292",
"frequency_reference_population": 0.005561761,
"hom_count_reference_population": 29,
"allele_count_reference_population": 8923,
"gnomad_exomes_af": 0.00576684,
"gnomad_genomes_af": 0.00360582,
"gnomad_exomes_ac": 8374,
"gnomad_genomes_ac": 549,
"gnomad_exomes_homalt": 26,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006307095289230347,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.1052,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.591,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000334126.12",
"gene_symbol": "C2CD3",
"hgnc_id": 24564,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Pro235Leu"
}
],
"clinvar_disease": "C2CD3-related disorder,Inborn genetic diseases,Orofaciodigital syndrome type 14,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:3",
"phenotype_combined": "not specified|not provided|Orofaciodigital syndrome type 14|C2CD3-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}