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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: 3-3040139-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=3040139&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 3040139,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_175607.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "NM_175607.3",
"protein_id": "NP_783200.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": "ENST00000418658.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175607.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "ENST00000418658.6",
"protein_id": "ENSP00000396010.1",
"transcript_support_level": 5,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": "NM_175607.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418658.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Asp428Tyr",
"transcript": "ENST00000397459.6",
"protein_id": "ENSP00000380600.2",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 698,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397459.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "n.516G>T",
"hgvs_p": null,
"transcript": "ENST00000484686.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484686.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "NM_001206955.2",
"protein_id": "NP_001193884.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2650,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206955.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "NM_001350095.2",
"protein_id": "NP_001337024.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 5453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350095.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "ENST00000397461.5",
"protein_id": "ENSP00000380602.1",
"transcript_support_level": 5,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2650,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397461.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "ENST00000427331.5",
"protein_id": "ENSP00000413642.1",
"transcript_support_level": 5,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427331.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "ENST00000968521.1",
"protein_id": "ENSP00000638580.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968521.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2104G>T",
"hgvs_p": "p.Asp702Tyr",
"transcript": "ENST00000968522.1",
"protein_id": "ENSP00000638581.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 972,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2522,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968522.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Asp428Tyr",
"transcript": "NM_175613.3",
"protein_id": "NP_783302.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 698,
"cds_start": 1282,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 3921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175613.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.1279G>T",
"hgvs_p": "p.Asp427Tyr",
"transcript": "NM_001206956.2",
"protein_id": "NP_001193885.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 697,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206956.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_011533425.4",
"protein_id": "XP_011531727.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533425.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_011533427.3",
"protein_id": "XP_011531729.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 5434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533427.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_011533428.3",
"protein_id": "XP_011531730.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533428.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_011533429.3",
"protein_id": "XP_011531731.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 4625,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533429.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_011533430.3",
"protein_id": "XP_011531732.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533430.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_017005782.2",
"protein_id": "XP_016861271.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 5227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005782.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_017005783.2",
"protein_id": "XP_016861272.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 3496,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005783.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_017005784.3",
"protein_id": "XP_016861273.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2894,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005784.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_047447516.1",
"protein_id": "XP_047303472.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2266,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 3152,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447516.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr",
"transcript": "XM_047447517.1",
"protein_id": "XP_047303473.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 1026,
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{
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],
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{
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"protein_coding": true,
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],
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"gene_symbol": "CNTN4",
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},
{
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"strand": true,
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],
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"gene_symbol": "CNTN4",
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"protein_id": "ENSP00000396719.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427741.5"
},
{
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"gene_symbol": "CNTN4-AS1",
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"biotype": "pseudogene",
"feature": "NR_046554.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "CNTN4",
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"hgvs_c": "n.*1461G>T",
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"transcript": "ENST00000427741.5",
"protein_id": "ENSP00000396719.1",
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"cds_length": null,
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"cdna_end": null,
"cdna_length": 3057,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427741.5"
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],
"gene_symbol": "CNTN4",
"gene_hgnc_id": 2174,
"dbsnp": "rs1700016314",
"frequency_reference_population": 0.0000065703885,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7954424619674683,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.324,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4272,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.764,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.11,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_175607.3",
"gene_symbol": "CNTN4",
"hgnc_id": 2174,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2266G>T",
"hgvs_p": "p.Asp756Tyr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442749.2",
"gene_symbol": "CNTN4-AS1",
"hgnc_id": 39985,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.534C>A",
"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
}