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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: 10-45743441-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45743441&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 45743441,
"ref": "A",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001367406.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "NM_001330074.2",
"protein_id": "NP_001317003.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1341,
"cds_start": 580,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "ENST00000623400.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330074.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000623400.4",
"protein_id": "ENSP00000485513.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 1341,
"cds_start": 580,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": "NM_001330074.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623400.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000374362.6",
"protein_id": "ENSP00000363482.2",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 1320,
"cds_start": 580,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 4623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374362.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000540872.6",
"protein_id": "ENSP00000439811.1",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 1279,
"cds_start": 580,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 4327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540872.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.-1141A>T",
"hgvs_p": null,
"transcript": "NM_001367406.1",
"protein_id": "NP_001354335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": null,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367406.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000884843.1",
"protein_id": "ENSP00000554902.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1370,
"cds_start": 580,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884843.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "NM_001367395.1",
"protein_id": "NP_001354324.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1362,
"cds_start": 580,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367395.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000968485.1",
"protein_id": "ENSP00000638544.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1356,
"cds_start": 580,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968485.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000968495.1",
"protein_id": "ENSP00000638554.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1349,
"cds_start": 580,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968495.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000884848.1",
"protein_id": "ENSP00000554907.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1340,
"cds_start": 580,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884848.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000968461.1",
"protein_id": "ENSP00000638520.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1340,
"cds_start": 580,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968461.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000968469.1",
"protein_id": "ENSP00000638528.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1340,
"cds_start": 580,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968469.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000884847.1",
"protein_id": "ENSP00000554906.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1339,
"cds_start": 580,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884847.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000919846.1",
"protein_id": "ENSP00000589905.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1339,
"cds_start": 580,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919846.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.571A>T",
"hgvs_p": "p.Met191Leu",
"transcript": "ENST00000968474.1",
"protein_id": "ENSP00000638533.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1338,
"cds_start": 571,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968474.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000968486.1",
"protein_id": "ENSP00000638545.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1335,
"cds_start": 580,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968486.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000968481.1",
"protein_id": "ENSP00000638540.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1332,
"cds_start": 580,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 4626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968481.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000884852.1",
"protein_id": "ENSP00000554911.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1321,
"cds_start": 580,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884852.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "NM_015262.3",
"protein_id": "NP_056077.2",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1320,
"cds_start": 580,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 4579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015262.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000968457.1",
"protein_id": "ENSP00000638516.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1319,
"cds_start": 580,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 4636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968457.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Met194Leu",
"transcript": "ENST00000968463.1",
"protein_id": "ENSP00000638522.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 1319,
"cds_start": 580,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968463.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.577A>T",
"hgvs_p": "p.Met193Leu",
"transcript": "NM_001367393.1",
"protein_id": "NP_001354322.1",
"transcript_support_level": null,
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"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001367407.1",
"protein_id": "NP_001354336.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367407.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001367414.1",
"protein_id": "NP_001354343.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367414.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001367398.1",
"protein_id": "NP_001354327.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367398.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "XM_047424957.1",
"protein_id": "XP_047280913.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "c.-1141A>T",
"hgvs_p": null,
"transcript": "NM_001367406.1",
"protein_id": "NP_001354335.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 711,
"cds_start": null,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "n.108A>T",
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"transcript": "ENST00000485850.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 273,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"hgvs_c": "n.729A>T",
"hgvs_p": null,
"transcript": "NR_159966.1",
"protein_id": null,
"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": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_159966.1"
}
],
"gene_symbol": "WASHC2C",
"gene_hgnc_id": 23414,
"dbsnp": "rs782654031",
"frequency_reference_population": 0.000006570302,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85091e-7,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25785231590270996,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.546,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_001367406.1",
"gene_symbol": "WASHC2C",
"hgnc_id": 23414,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-1141A>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
}