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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: 3-184136687-ACA-GCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184136687&ref=ACA&alt=GCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF2B5",
"hgnc_id": 3261,
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"inheritance_mode": "AR",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_003907.3",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EIF2B5-DT",
"hgnc_id": 55202,
"hgvs_c": "n.116+4211_116+4213delTGTinsAGC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000723636.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1_Very_Strong,PP3",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": 721,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 299,
"cds_end": null,
"cds_length": 2166,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003907.3",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000648915.2",
"protein_coding": true,
"protein_id": "NP_003898.2",
"strand": true,
"transcript": "NM_003907.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 721,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 299,
"cds_end": null,
"cds_length": 2166,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648915.2",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003907.3",
"protein_coding": true,
"protein_id": "ENSP00000497160.1",
"strand": true,
"transcript": "ENST00000648915.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 107,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": 292,
"cds_end": null,
"cds_length": 324,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432569.2",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414775.1",
"strand": true,
"transcript": "ENST00000432569.2",
"transcript_support_level": 1
},
{
"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": 3460,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000481054.5",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "n.272_274delACAinsGCT",
"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": "ENST00000481054.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 280,
"cds_end": null,
"cds_length": 2190,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647909.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498164.1",
"strand": true,
"transcript": "ENST00000647909.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": 282,
"cds_end": null,
"cds_length": 2184,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896966.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567025.1",
"strand": true,
"transcript": "ENST00000896966.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 719,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2160,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896962.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567021.1",
"strand": true,
"transcript": "ENST00000896962.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 272,
"cds_end": null,
"cds_length": 2157,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896969.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567028.1",
"strand": true,
"transcript": "ENST00000896969.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 716,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 296,
"cds_end": null,
"cds_length": 2151,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950217.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620276.1",
"strand": true,
"transcript": "ENST00000950217.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 695,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2088,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896965.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567023.1",
"strand": true,
"transcript": "ENST00000896965.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 694,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2085,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896963.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567022.1",
"strand": true,
"transcript": "ENST00000896963.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 692,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 326,
"cds_end": null,
"cds_length": 2079,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926646.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596705.1",
"strand": true,
"transcript": "ENST00000926646.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 684,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 275,
"cds_end": null,
"cds_length": 2055,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926648.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596707.1",
"strand": true,
"transcript": "ENST00000926648.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 659,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 274,
"cds_end": null,
"cds_length": 1980,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950218.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620277.1",
"strand": true,
"transcript": "ENST00000950218.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 638,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 282,
"cds_end": null,
"cds_length": 1917,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896968.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567027.1",
"strand": true,
"transcript": "ENST00000896968.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 592,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1779,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950216.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620275.1",
"strand": true,
"transcript": "ENST00000950216.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 530,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1698,
"cdna_start": 299,
"cds_end": null,
"cds_length": 1593,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449148.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.271_273delACAinsGCT",
"hgvs_p": "p.Thr91Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305104.1",
"strand": true,
"transcript": "XM_047449148.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926649.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.195+1107_195+1109delACAinsGCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596708.1",
"strand": true,
"transcript": "ENST00000926649.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 299,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": null,
"cds_end": null,
"cds_length": 900,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926647.1",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "c.36+1266_36+1268delACAinsGCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596706.1",
"strand": true,
"transcript": "ENST00000926647.1",
"transcript_support_level": null
},
{
"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": 2850,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000465218.3",
"gene_hgnc_id": 3261,
"gene_symbol": "EIF2B5",
"hgvs_c": "n.294_296delACAinsGCT",
"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": "ENST00000465218.3",
"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,
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