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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: 7-122387103-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122387103&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CADPS2",
"hgnc_id": 16018,
"hgvs_c": "c.3256G>A",
"hgvs_p": "p.Val1086Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001363389.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293696",
"hgnc_id": null,
"hgvs_c": "n.671+32687C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000718494.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000240499",
"hgnc_id": null,
"hgvs_c": "n.182-25707C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000591140.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.0847,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "CADPS2-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.026712745428085327,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1296,
"aa_ref": "V",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 3358,
"cds_end": null,
"cds_length": 3891,
"cds_start": 3235,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_017954.11",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Val1079Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000449022.7",
"protein_coding": true,
"protein_id": "NP_060424.9",
"strand": false,
"transcript": "NM_017954.11",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1296,
"aa_ref": "V",
"aa_start": 1079,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 3358,
"cds_end": null,
"cds_length": 3891,
"cds_start": 3235,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000449022.7",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Val1079Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017954.11",
"protein_coding": true,
"protein_id": "ENSP00000398481.2",
"strand": false,
"transcript": "ENST00000449022.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "V",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 3218,
"cds_end": null,
"cds_length": 3768,
"cds_start": 3097,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000412584.6",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3097G>A",
"hgvs_p": "p.Val1033Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400401.2",
"strand": false,
"transcript": "ENST00000412584.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1308,
"aa_ref": "V",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5804,
"cdna_start": 3379,
"cds_end": null,
"cds_length": 3927,
"cds_start": 3256,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001363389.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3256G>A",
"hgvs_p": "p.Val1086Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350318.1",
"strand": false,
"transcript": "NM_001363389.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "V",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5789,
"cdna_start": 3379,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3256,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001363390.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3256G>A",
"hgvs_p": "p.Val1086Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350319.1",
"strand": false,
"transcript": "NM_001363390.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "V",
"aa_start": 1080,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 3461,
"cds_end": null,
"cds_length": 3909,
"cds_start": 3238,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000951082.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3238G>A",
"hgvs_p": "p.Val1080Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621141.1",
"strand": false,
"transcript": "ENST00000951082.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "V",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001167940.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Val1083Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161412.1",
"strand": false,
"transcript": "NM_001167940.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1300,
"aa_ref": "V",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5780,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3903,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001363391.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Val1083Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350320.1",
"strand": false,
"transcript": "NM_001363391.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "V",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6029,
"cdna_start": 3618,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3217,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951078.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3217G>A",
"hgvs_p": "p.Val1073Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621137.1",
"strand": false,
"transcript": "ENST00000951078.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "V",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 3312,
"cds_end": null,
"cds_length": 3873,
"cds_start": 3217,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000870413.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3217G>A",
"hgvs_p": "p.Val1073Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540472.1",
"strand": false,
"transcript": "ENST00000870413.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 1284,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 3332,
"cds_end": null,
"cds_length": 3855,
"cds_start": 3217,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951090.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3217G>A",
"hgvs_p": "p.Val1073Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621149.1",
"strand": false,
"transcript": "ENST00000951090.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 3296,
"cds_end": null,
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"cds_start": 3169,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951089.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3169G>A",
"hgvs_p": "p.Val1057Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621148.1",
"strand": false,
"transcript": "ENST00000951089.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1268,
"aa_ref": "V",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 3259,
"cds_end": null,
"cds_length": 3807,
"cds_start": 3136,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001363392.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350321.1",
"strand": false,
"transcript": "NM_001363392.2",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 3259,
"cds_end": null,
"cds_length": 3792,
"cds_start": 3136,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001363393.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350322.1",
"strand": false,
"transcript": "NM_001363393.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "V",
"aa_start": 1040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5920,
"cdna_start": 3509,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3118,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000951079.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3118G>A",
"hgvs_p": "p.Val1040Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621138.1",
"strand": false,
"transcript": "ENST00000951079.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "V",
"aa_start": 1043,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5660,
"cdna_start": 3250,
"cds_end": null,
"cds_length": 3783,
"cds_start": 3127,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001363394.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3127G>A",
"hgvs_p": "p.Val1043Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350323.1",
"strand": false,
"transcript": "NM_001363394.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_start": 3241,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3118,
"consequences": [
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],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001363395.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3118G>A",
"hgvs_p": "p.Val1040Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350324.1",
"strand": false,
"transcript": "NM_001363395.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 1257,
"aa_ref": "V",
"aa_start": 1040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4738,
"cdna_start": 3245,
"cds_end": null,
"cds_length": 3774,
"cds_start": 3118,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000870411.1",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3118G>A",
"hgvs_p": "p.Val1040Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540470.1",
"strand": false,
"transcript": "ENST00000870411.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "V",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5648,
"cdna_start": 3238,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3115,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001363396.2",
"gene_hgnc_id": 16018,
"gene_symbol": "CADPS2",
"hgvs_c": "c.3115G>A",
"hgvs_p": "p.Val1039Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350325.1",
"strand": false,
"transcript": "NM_001363396.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "V",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5645,
"cdna_start": 3220,
"cds_end": null,
"cds_length": 3768,
"cds_start": 3097,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001009571.4",
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