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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: 2-27367169-CCG-TCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27367169&ref=CCG&alt=TCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF2B4",
"hgnc_id": 3260,
"hgvs_c": "c.979_981delCGGinsGGA",
"hgvs_p": "p.Arg327Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001318965.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "GTF3C2-AS2",
"hgnc_id": 55699,
"hgvs_c": "n.238-255_238-253delCCGinsTCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000412749.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "G",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1572,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001034116.2",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.916_918delCGGinsGGA",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000347454.9",
"protein_coding": true,
"protein_id": "NP_001029288.1",
"strand": false,
"transcript": "NM_001034116.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1572,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347454.9",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.916_918delCGGinsGGA",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001034116.2",
"protein_coding": true,
"protein_id": "ENSP00000233552.6",
"strand": false,
"transcript": "ENST00000347454.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 543,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1632,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000451130.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.976_978delCGGinsGGA",
"hgvs_p": "p.Arg326Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394869.2",
"strand": false,
"transcript": "ENST00000451130.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1569,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000445933.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.913_915delCGGinsGGA",
"hgvs_p": "p.Arg305Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394397.2",
"strand": false,
"transcript": "ENST00000445933.6",
"transcript_support_level": 1
},
{
"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": 1570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000405940.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "n.*182_*184delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000384375.2",
"strand": false,
"transcript": "ENST00000405940.6",
"transcript_support_level": 1
},
{
"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": 1570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000405940.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "n.*182_*184delCGGinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000384375.2",
"strand": false,
"transcript": "ENST00000405940.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 550,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1653,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945158.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.997_999delCGGinsGGA",
"hgvs_p": "p.Arg333Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615217.1",
"strand": false,
"transcript": "ENST00000945158.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1635,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318965.2",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.979_981delCGGinsGGA",
"hgvs_p": "p.Arg327Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305894.1",
"strand": false,
"transcript": "NM_001318965.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1635,
"cds_start": 979,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000493344.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.979_981delCGGinsGGA",
"hgvs_p": "p.Arg327Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429323.1",
"strand": false,
"transcript": "ENST00000493344.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 543,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1632,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_172195.4",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.976_978delCGGinsGGA",
"hgvs_p": "p.Arg326Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_751945.2",
"strand": false,
"transcript": "NM_172195.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 535,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1608,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920939.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.952_954delCGGinsGGA",
"hgvs_p": "p.Arg318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590998.1",
"strand": false,
"transcript": "ENST00000920939.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1593,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945157.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.937_939delCGGinsGGA",
"hgvs_p": "p.Arg313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615216.1",
"strand": false,
"transcript": "ENST00000945157.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1590,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945155.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.934_936delCGGinsGGA",
"hgvs_p": "p.Arg312Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615214.1",
"strand": false,
"transcript": "ENST00000945155.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 939,
"cds_end": null,
"cds_length": 1569,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015636.4",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.913_915delCGGinsGGA",
"hgvs_p": "p.Arg305Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056451.3",
"strand": false,
"transcript": "NM_015636.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1569,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920928.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.913_915delCGGinsGGA",
"hgvs_p": "p.Arg305Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590987.1",
"strand": false,
"transcript": "ENST00000920928.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1569,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920929.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.913_915delCGGinsGGA",
"hgvs_p": "p.Arg305Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590988.1",
"strand": false,
"transcript": "ENST00000920929.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1566,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920931.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.910_912delCGGinsGGA",
"hgvs_p": "p.Arg304Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590990.1",
"strand": false,
"transcript": "ENST00000920931.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1566,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945153.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.910_912delCGGinsGGA",
"hgvs_p": "p.Arg304Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615212.1",
"strand": false,
"transcript": "ENST00000945153.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1527,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318966.2",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.871_873delCGGinsGGA",
"hgvs_p": "p.Arg291Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305895.1",
"strand": false,
"transcript": "NM_001318966.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1524,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945152.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.868_870delCGGinsGGA",
"hgvs_p": "p.Arg290Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615211.1",
"strand": false,
"transcript": "ENST00000945152.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
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