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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: 13-113219020-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113219020&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CUL4A",
"hgnc_id": 2554,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001008895.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.0845,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11732226610183716,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 759,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5821,
"cdna_start": 355,
"cds_end": null,
"cds_length": 2280,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001008895.4",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375440.9",
"protein_coding": true,
"protein_id": "NP_001008895.1",
"strand": true,
"transcript": "NM_001008895.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 759,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5821,
"cdna_start": 355,
"cds_end": null,
"cds_length": 2280,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375440.9",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001008895.4",
"protein_coding": true,
"protein_id": "ENSP00000364589.4",
"strand": true,
"transcript": "ENST00000375440.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 667,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 251,
"cds_end": null,
"cds_length": 2004,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000326335.8",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322132.5",
"strand": true,
"transcript": "ENST00000326335.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4037,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1980,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375441.7",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364590.3",
"strand": true,
"transcript": "ENST00000375441.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5666,
"cdna_start": 200,
"cds_end": null,
"cds_length": 1980,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000617546.4",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481782.1",
"strand": true,
"transcript": "ENST00000617546.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 724,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3719,
"cdna_start": 394,
"cds_end": null,
"cds_length": 2175,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000909782.1",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579841.1",
"strand": true,
"transcript": "ENST00000909782.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 667,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5741,
"cdna_start": 251,
"cds_end": null,
"cds_length": 2004,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001278514.3",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265443.1",
"strand": true,
"transcript": "NM_001278514.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6073,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1980,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001278513.3",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265442.1",
"strand": true,
"transcript": "NM_001278513.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5717,
"cdna_start": 251,
"cds_end": null,
"cds_length": 1980,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354938.2",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341867.1",
"strand": true,
"transcript": "NM_001354938.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1980,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354939.2",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341868.1",
"strand": true,
"transcript": "NM_001354939.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5796,
"cdna_start": 330,
"cds_end": null,
"cds_length": 1980,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354940.2",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341869.1",
"strand": true,
"transcript": "NM_001354940.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 659,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5755,
"cdna_start": 289,
"cds_end": null,
"cds_length": 1980,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003589.4",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003580.1",
"strand": true,
"transcript": "NM_003589.4",
"transcript_support_level": null
},
{
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"aa_length": 659,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3724,
"cdna_start": 289,
"cds_end": null,
"cds_length": 1980,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000451881.5",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389118.1",
"strand": true,
"transcript": "ENST00000451881.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 174,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 355,
"cds_end": null,
"cds_length": 525,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354943.2",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341872.1",
"strand": true,
"transcript": "NM_001354943.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 174,
"aa_ref": "V",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 368,
"cds_end": null,
"cds_length": 525,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000488558.2",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480367.1",
"strand": true,
"transcript": "ENST00000488558.2",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 74,
"aa_ref": "V",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1039,
"cdna_start": 289,
"cds_end": null,
"cds_length": 225,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354944.2",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341873.1",
"strand": true,
"transcript": "NM_001354944.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 614,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5819,
"cdna_start": null,
"cds_end": null,
"cds_length": 1845,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354941.2",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.-94G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341870.1",
"strand": true,
"transcript": "NM_001354941.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 614,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5817,
"cdna_start": null,
"cds_end": null,
"cds_length": 1845,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354942.2",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "c.-92G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341871.1",
"strand": true,
"transcript": "NM_001354942.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000463426.5",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "n.332G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000463426.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 866,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000474116.5",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "n.352G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000474116.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 292,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000494985.5",
"gene_hgnc_id": 2554,
"gene_symbol": "CUL4A",
"hgvs_c": "n.222G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
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{
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],
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"pathogenicity_classification_combined": "Uncertain significance",
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]
}