← 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: 20-57508707-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=57508707&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 57508707,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000243914.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001386993.1",
"protein_id": "NP_001373922.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 663,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": "ENST00000243914.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "ENST00000243914.8",
"protein_id": "ENSP00000243914.3",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 663,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": "NM_001386993.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "ENST00000423479.7",
"protein_id": "ENSP00000415579.2",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 700,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "ENST00000608440.5",
"protein_id": "ENSP00000477488.1",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 665,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "ENST00000371196.6",
"protein_id": "ENSP00000360239.2",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 663,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "ENST00000608263.5",
"protein_id": "ENSP00000476783.1",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 663,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "ENST00000609232.5",
"protein_id": "ENSP00000476398.1",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 663,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "ENST00000608425.5",
"protein_id": "ENSP00000476458.1",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 627,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1423C>G",
"hgvs_p": "p.Gln475Glu",
"transcript": "ENST00000429804.7",
"protein_id": "ENSP00000415329.2",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 613,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "ENST00000422869.6",
"protein_id": "ENSP00000399061.2",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 573,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1141C>G",
"hgvs_p": "p.Gln381Glu",
"transcript": "ENST00000432255.6",
"protein_id": "ENSP00000409344.2",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 483,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Gln320Glu",
"transcript": "ENST00000433949.7",
"protein_id": "ENSP00000392034.3",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 460,
"cds_start": 958,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Gln320Glu",
"transcript": "ENST00000539382.5",
"protein_id": "ENSP00000439998.1",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 422,
"cds_start": 958,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.787C>G",
"hgvs_p": "p.Gln263Glu",
"transcript": "ENST00000502686.6",
"protein_id": "ENSP00000437999.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 403,
"cds_start": 787,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.787C>G",
"hgvs_p": "p.Gln263Glu",
"transcript": "ENST00000608903.5",
"protein_id": "ENSP00000476718.1",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 299,
"cds_start": 787,
"cds_end": null,
"cds_length": 900,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2135,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "n.*854C>G",
"hgvs_p": null,
"transcript": "ENST00000426658.6",
"protein_id": "ENSP00000403369.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3996,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "n.*854C>G",
"hgvs_p": null,
"transcript": "ENST00000426658.6",
"protein_id": "ENSP00000403369.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "n.1181-3C>G",
"hgvs_p": null,
"transcript": "ENST00000422109.6",
"protein_id": "ENSP00000413713.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001269043.2",
"protein_id": "NP_001255972.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 700,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001269044.3",
"protein_id": "NP_001255973.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 665,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001269040.2",
"protein_id": "NP_001255969.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 663,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001269041.2",
"protein_id": "NP_001255970.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 663,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_080618.4",
"protein_id": "NP_542185.2",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 663,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001269042.2",
"protein_id": "NP_001255971.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 662,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001386994.1",
"protein_id": "NP_001373923.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 662,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001386995.1",
"protein_id": "NP_001373924.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 662,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001269045.2",
"protein_id": "NP_001255974.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 627,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1423C>G",
"hgvs_p": "p.Gln475Glu",
"transcript": "NM_001269046.2",
"protein_id": "NP_001255975.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 613,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1423C>G",
"hgvs_p": "p.Gln475Glu",
"transcript": "NM_001386997.1",
"protein_id": "NP_001373926.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 612,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu",
"transcript": "NM_001269047.2",
"protein_id": "NP_001255976.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 573,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.1141C>G",
"hgvs_p": "p.Gln381Glu",
"transcript": "NM_001269048.3",
"protein_id": "NP_001255977.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 483,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Gln320Glu",
"transcript": "NM_001269049.2",
"protein_id": "NP_001255978.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 460,
"cds_start": 958,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Gln320Glu",
"transcript": "NM_001269050.3",
"protein_id": "NP_001255979.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 422,
"cds_start": 958,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.787C>G",
"hgvs_p": "p.Gln263Glu",
"transcript": "NM_001269054.2",
"protein_id": "NP_001255983.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 403,
"cds_start": 787,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "c.787C>G",
"hgvs_p": "p.Gln263Glu",
"transcript": "NM_001269055.3",
"protein_id": "NP_001255984.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 299,
"cds_start": 787,
"cds_end": null,
"cds_length": 900,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 1904,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "n.2702C>G",
"hgvs_p": null,
"transcript": "NR_072975.3",
"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": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"hgvs_c": "n.1673-3C>G",
"hgvs_p": null,
"transcript": "NR_170377.1",
"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": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTCFL",
"gene_hgnc_id": 16234,
"dbsnp": "rs6070122",
"frequency_reference_population": 0.022570277,
"hom_count_reference_population": 519,
"allele_count_reference_population": 36431,
"gnomad_exomes_af": 0.0230437,
"gnomad_genomes_af": 0.018026,
"gnomad_exomes_ac": 33686,
"gnomad_genomes_ac": 2745,
"gnomad_exomes_homalt": 481,
"gnomad_genomes_homalt": 38,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005457043647766113,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.285,
"revel_prediction": "Benign",
"alphamissense_score": 0.5696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.771,
"phylop100way_prediction": "Pathogenic",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000243914.8",
"gene_symbol": "CTCFL",
"hgnc_id": 16234,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Gln525Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}