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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: 11-970298-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=970298&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AP2A2",
"hgnc_id": 562,
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001242837.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9784,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7185250520706177,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 939,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4587,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2820,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_012305.4",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000448903.7",
"protein_coding": true,
"protein_id": "NP_036437.1",
"strand": true,
"transcript": "NM_012305.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 939,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4587,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2820,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000448903.7",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012305.4",
"protein_coding": true,
"protein_id": "ENSP00000413234.3",
"strand": true,
"transcript": "ENST00000448903.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 940,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 479,
"cds_end": null,
"cds_length": 2823,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000332231.9",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327694.5",
"strand": true,
"transcript": "ENST00000332231.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3072,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000528815.5",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "n.266C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431630.1",
"strand": true,
"transcript": "ENST00000528815.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4385,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000687792.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "n.266C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508951.1",
"strand": true,
"transcript": "ENST00000687792.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000687890.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "n.266C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510756.1",
"strand": true,
"transcript": "ENST00000687890.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000693238.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "n.266C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510648.1",
"strand": true,
"transcript": "ENST00000693238.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": 418,
"cds_end": null,
"cds_length": 3015,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860666.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530725.1",
"strand": true,
"transcript": "ENST00000860666.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 958,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4107,
"cdna_start": 338,
"cds_end": null,
"cds_length": 2877,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860668.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530727.1",
"strand": true,
"transcript": "ENST00000860668.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 940,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2823,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001242837.2",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229766.1",
"strand": true,
"transcript": "NM_001242837.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 937,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 347,
"cds_end": null,
"cds_length": 2814,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860669.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530728.1",
"strand": true,
"transcript": "ENST00000860669.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 937,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": 397,
"cds_end": null,
"cds_length": 2814,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000947238.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617297.1",
"strand": true,
"transcript": "ENST00000947238.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 906,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4477,
"cdna_start": 408,
"cds_end": null,
"cds_length": 2721,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860667.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530726.1",
"strand": true,
"transcript": "ENST00000860667.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 905,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4522,
"cdna_start": 457,
"cds_end": null,
"cds_length": 2718,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860665.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530724.1",
"strand": true,
"transcript": "ENST00000860665.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 898,
"aa_ref": "T",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4418,
"cdna_start": 367,
"cds_end": null,
"cds_length": 2697,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000916663.1",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.266C>A",
"hgvs_p": "p.Thr89Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586722.1",
"strand": true,
"transcript": "ENST00000916663.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 264,
"aa_ref": "T",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": 359,
"cds_end": null,
"cds_length": 796,
"cds_start": 248,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527024.2",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Thr83Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434563.2",
"strand": true,
"transcript": "ENST00000527024.2",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 194,
"aa_ref": "T",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1250,
"cdna_start": 702,
"cds_end": null,
"cds_length": 586,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000524559.2",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Thr13Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434432.2",
"strand": true,
"transcript": "ENST00000524559.2",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 194,
"aa_ref": "T",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": 315,
"cds_end": null,
"cds_length": 586,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526753.6",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Thr13Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435863.2",
"strand": true,
"transcript": "ENST00000526753.6",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 194,
"aa_ref": "T",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 804,
"cdna_start": 256,
"cds_end": null,
"cds_length": 586,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000529818.6",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Thr13Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509792.1",
"strand": true,
"transcript": "ENST00000529818.6",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 194,
"aa_ref": "T",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 962,
"cdna_start": 414,
"cds_end": null,
"cds_length": 586,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000530801.6",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Thr13Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434553.2",
"strand": true,
"transcript": "ENST00000530801.6",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 194,
"aa_ref": "T",
"aa_start": 13,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 838,
"cdna_start": 290,
"cds_end": null,
"cds_length": 586,
"cds_start": 38,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000531548.6",
"gene_hgnc_id": 562,
"gene_symbol": "AP2A2",
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Thr13Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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