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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: 11-30878716-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=30878716&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "DCDC1",
"hgnc_id": 20625,
"hgvs_c": "c.5234-6dupT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001387274.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000287373",
"hgnc_id": null,
"hgvs_c": "n.464-24805_464-24804insA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000749566.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124902656",
"hgnc_id": null,
"hgvs_c": "n.494-7723dupA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "XR_007062643.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 13460,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7298,
"cdna_start": null,
"cds_end": null,
"cds_length": 5361,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387274.1",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5234-6dupT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684477.1",
"protein_coding": true,
"protein_id": "NP_001374203.1",
"strand": false,
"transcript": "NM_001387274.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7298,
"cdna_start": null,
"cds_end": null,
"cds_length": 5361,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684477.1",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5234-6_5234-5insT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387274.1",
"protein_coding": true,
"protein_id": "ENSP00000507427.1",
"strand": false,
"transcript": "ENST00000684477.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1783,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7289,
"cdna_start": null,
"cds_end": null,
"cds_length": 5352,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367979.1",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5225-6dupT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354908.1",
"strand": false,
"transcript": "NM_001367979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1783,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": null,
"cds_end": null,
"cds_length": 5352,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597505.5",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5225-6_5225-5insT",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472625.1",
"strand": false,
"transcript": "ENST00000597505.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 890,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4598,
"cdna_start": null,
"cds_end": null,
"cds_length": 2673,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020869.4",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.2546-6dupT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065920.2",
"strand": false,
"transcript": "NM_020869.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 890,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4758,
"cdna_start": null,
"cds_end": null,
"cds_length": 2673,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406071.6",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.2546-6_2546-5insT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385936.3",
"strand": false,
"transcript": "ENST00000406071.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 701,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": null,
"cds_end": null,
"cds_length": 2106,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387275.1",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.1979-6dupT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374204.1",
"strand": false,
"transcript": "NM_001387275.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7362,
"cdna_start": null,
"cds_end": null,
"cds_length": 5361,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448471.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5234-6dupT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304239.1",
"strand": false,
"transcript": "XM_024448471.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8011,
"cdna_start": null,
"cds_end": null,
"cds_length": 5361,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448472.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5234-6dupT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304240.1",
"strand": false,
"transcript": "XM_024448472.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7530,
"cdna_start": null,
"cds_end": null,
"cds_length": 5361,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448473.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5234-6dupT",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304241.1",
"strand": false,
"transcript": "XM_024448473.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1786,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5569,
"cdna_start": null,
"cds_end": null,
"cds_length": 5361,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426876.1",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5234-6dupT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282832.1",
"strand": false,
"transcript": "XM_047426876.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1768,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7244,
"cdna_start": null,
"cds_end": null,
"cds_length": 5307,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448475.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5180-6dupT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304243.1",
"strand": false,
"transcript": "XM_024448475.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1741,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7163,
"cdna_start": null,
"cds_end": null,
"cds_length": 5226,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448476.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5099-6dupT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304244.1",
"strand": false,
"transcript": "XM_024448476.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1718,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7094,
"cdna_start": null,
"cds_end": null,
"cds_length": 5157,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448477.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.5030-6dupT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304245.1",
"strand": false,
"transcript": "XM_024448477.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1686,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6998,
"cdna_start": null,
"cds_end": null,
"cds_length": 5061,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448478.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.4934-6dupT",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304246.1",
"strand": false,
"transcript": "XM_024448478.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1501,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6362,
"cdna_start": null,
"cds_end": null,
"cds_length": 4506,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448480.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.4379-6dupT",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304248.1",
"strand": false,
"transcript": "XM_024448480.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1458,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6254,
"cdna_start": null,
"cds_end": null,
"cds_length": 4377,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024448481.2",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "c.4250-6dupT",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304249.1",
"strand": false,
"transcript": "XM_024448481.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000303697.8",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "n.*1550-6_*1550-5insT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000306898.4",
"strand": false,
"transcript": "ENST00000303697.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444572.6",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "n.2327-6_2327-5insT",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000404672.2",
"strand": false,
"transcript": "ENST00000444572.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4695,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000483396.5",
"gene_hgnc_id": 20625,
"gene_symbol": "DCDC1",
"hgvs_c": "n.4137-6_4137-5insT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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