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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: 4-26386369-CCT-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=26386369&ref=CCT&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RBPJ",
"hgnc_id": 5724,
"hgvs_c": "c.76_78delCCTinsGCG",
"hgvs_p": "p.Pro26Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005349.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": "A",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": 52,
"cds_end": null,
"cds_length": 1464,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015874.6",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.37_39delCCTinsGCG",
"hgvs_p": "p.Pro13Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355476.8",
"protein_coding": true,
"protein_id": "NP_056958.3",
"strand": true,
"transcript": "NM_015874.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 487,
"aa_ref": "P",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5395,
"cdna_start": 52,
"cds_end": null,
"cds_length": 1464,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355476.8",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.37_39delCCTinsGCG",
"hgvs_p": "p.Pro13Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015874.6",
"protein_coding": true,
"protein_id": "ENSP00000347659.4",
"strand": true,
"transcript": "ENST00000355476.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 270,
"cds_end": null,
"cds_length": 1503,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361572.10",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.76_78delCCTinsGCG",
"hgvs_p": "p.Pro26Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354528.6",
"strand": true,
"transcript": "ENST00000361572.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5761,
"cdna_start": 210,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342320.8",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340124.4",
"strand": true,
"transcript": "ENST00000342320.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 442,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348160.9",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339699.5",
"strand": true,
"transcript": "ENST00000348160.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": null,
"cds_end": null,
"cds_length": 1398,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000345843.8",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.-30_-28delCCTinsGCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000305815.6",
"strand": true,
"transcript": "ENST00000345843.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 465,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": null,
"cds_end": null,
"cds_length": 1398,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000507561.5",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.-30_-28delCCTinsGCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423907.1",
"strand": true,
"transcript": "ENST00000507561.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5709,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1503,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374400.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.76_78delCCTinsGCG",
"hgvs_p": "p.Pro26Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361329.1",
"strand": true,
"transcript": "NM_001374400.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5827,
"cdna_start": 276,
"cds_end": null,
"cds_length": 1503,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005349.4",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.76_78delCCTinsGCG",
"hgvs_p": "p.Pro26Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005340.2",
"strand": true,
"transcript": "NM_005349.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1503,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342295.6",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.76_78delCCTinsGCG",
"hgvs_p": "p.Pro26Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345206.1",
"strand": true,
"transcript": "ENST00000342295.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 242,
"cds_end": null,
"cds_length": 1503,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000512671.6",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.76_78delCCTinsGCG",
"hgvs_p": "p.Pro26Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423644.2",
"strand": true,
"transcript": "ENST00000512671.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5908,
"cdna_start": 357,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374401.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361330.1",
"strand": true,
"transcript": "NM_001374401.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": 260,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374402.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361331.1",
"strand": true,
"transcript": "NM_001374402.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 284,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374403.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361332.1",
"strand": true,
"transcript": "NM_001374403.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5894,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379406.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366335.1",
"strand": true,
"transcript": "NM_001379406.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6010,
"cdna_start": 459,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379407.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366336.1",
"strand": true,
"transcript": "NM_001379407.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5786,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_203284.3",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_976029.1",
"strand": true,
"transcript": "NM_203284.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505958.6",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426872.2",
"strand": true,
"transcript": "ENST00000505958.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 252,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680928.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505493.1",
"strand": true,
"transcript": "ENST00000680928.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1461,
"cds_start": 34,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681093.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.34_36delCCTinsGCG",
"hgvs_p": "p.Pro12Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504964.1",
"strand": true,
"transcript": "ENST00000681093.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 470,
"aa_ref": "P",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": 62,
"cds_end": null,
"cds_length": 1413,
"cds_start": 37,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000914590.1",
"gene_hgnc_id": 5724,
"gene_symbol": "RBPJ",
"hgvs_c": "c.37_39delCCTinsGCG",
"hgvs_p": "p.Pro13Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584649.1",
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