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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-76489748-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=76489748&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 76489748,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033401.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Pro649Ser",
"transcript": "NM_033401.5",
"protein_id": "NP_207837.2",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000611870.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033401.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Pro649Ser",
"transcript": "ENST00000611870.5",
"protein_id": "ENSP00000479811.1",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033401.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611870.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1801C>T",
"hgvs_p": "p.Pro601Ser",
"transcript": "ENST00000622250.4",
"protein_id": "ENSP00000477698.1",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 1260,
"cds_start": 1801,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622250.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287694",
"gene_hgnc_id": null,
"hgvs_c": "n.1945C>T",
"hgvs_p": null,
"transcript": "ENST00000655556.1",
"protein_id": "ENSP00000499374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000655556.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Pro652Ser",
"transcript": "ENST00000476707.1",
"protein_id": "ENSP00000417628.1",
"transcript_support_level": 2,
"aa_start": 652,
"aa_end": null,
"aa_length": 1311,
"cds_start": 1954,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476707.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Pro649Ser",
"transcript": "ENST00000307431.12",
"protein_id": "ENSP00000306893.9",
"transcript_support_level": 5,
"aa_start": 649,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307431.12"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Pro648Ser",
"transcript": "NM_001322181.2",
"protein_id": "NP_001309110.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1307,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322181.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1942C>T",
"hgvs_p": "p.Pro648Ser",
"transcript": "ENST00000958512.1",
"protein_id": "ENSP00000628571.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1307,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958512.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Pro649Ser",
"transcript": "NM_001322188.2",
"protein_id": "NP_001309117.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1273,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322188.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1801C>T",
"hgvs_p": "p.Pro601Ser",
"transcript": "NM_001322190.2",
"protein_id": "NP_001309119.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1260,
"cds_start": 1801,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322190.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1801C>T",
"hgvs_p": "p.Pro601Ser",
"transcript": "ENST00000377504.8",
"protein_id": "ENSP00000439733.2",
"transcript_support_level": 5,
"aa_start": 601,
"aa_end": null,
"aa_length": 1260,
"cds_start": 1801,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377504.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1795C>T",
"hgvs_p": "p.Pro599Ser",
"transcript": "NM_001322178.2",
"protein_id": "NP_001309107.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1795,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322178.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Pro576Ser",
"transcript": "NM_138994.5",
"protein_id": "NP_620481.2",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1726,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138994.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Pro576Ser",
"transcript": "ENST00000478060.5",
"protein_id": "ENSP00000418741.1",
"transcript_support_level": 5,
"aa_start": 576,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1726,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478060.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Pro649Ser",
"transcript": "NM_001322179.2",
"protein_id": "NP_001309108.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1228,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322179.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Pro649Ser",
"transcript": "ENST00000867849.1",
"protein_id": "ENSP00000537908.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1228,
"cds_start": 1945,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867849.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1681C>T",
"hgvs_p": "p.Pro561Ser",
"transcript": "NM_001322189.2",
"protein_id": "NP_001309118.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1681,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322189.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Pro520Ser",
"transcript": "NM_001322180.2",
"protein_id": "NP_001309109.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 1179,
"cds_start": 1558,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322180.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.1018C>T",
"hgvs_p": "p.Pro340Ser",
"transcript": "NM_001322191.2",
"protein_id": "NP_001309120.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 999,
"cds_start": 1018,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322191.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Pro241Ser",
"transcript": "ENST00000867850.1",
"protein_id": "ENSP00000537909.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 900,
"cds_start": 721,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867850.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Pro201Ser",
"transcript": "ENST00000867851.1",
"protein_id": "ENSP00000537910.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 860,
"cds_start": 601,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867851.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Pro177Ser",
"transcript": "NM_001322187.2",
"protein_id": "NP_001309116.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 836,
"cds_start": 529,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322187.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "CNTNAP4",
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"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Pro624Ser",
"transcript": "XM_011523403.3",
"protein_id": "XP_011521705.1",
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"cds_start": 1870,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523403.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "CNTNAP4",
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"hgvs_c": "c.*104C>T",
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"transcript": "XM_047434819.1",
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"aa_length": 628,
"cds_start": null,
"cds_end": null,
"cds_length": 1887,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434819.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "c.539-31392C>T",
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"transcript": "ENST00000867848.1",
"protein_id": "ENSP00000537907.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 699,
"cds_start": null,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867848.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "n.1914C>T",
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"transcript": "ENST00000471618.5",
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"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471618.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 25,
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"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "n.2207C>T",
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"transcript": "NR_136210.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136210.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 24,
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"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "n.2248C>T",
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"transcript": "NR_136213.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136213.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
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"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"hgvs_c": "n.2436C>T",
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"transcript": "NR_136216.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136216.2"
}
],
"gene_symbol": "CNTNAP4",
"gene_hgnc_id": 18747,
"dbsnp": "rs777746016",
"frequency_reference_population": 0.000002754601,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027546,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06812378764152527,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.527,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033401.5",
"gene_symbol": "CNTNAP4",
"hgnc_id": 18747,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Pro649Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000655556.1",
"gene_symbol": "ENSG00000287694",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1945C>T",
"hgvs_p": null
}
],
"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
}