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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: 22-36141537-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36141537&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APOL3",
"hgnc_id": 14868,
"hgvs_c": "c.872T>C",
"hgvs_p": "p.Ile291Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_145640.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 164,
"alphamissense_prediction": null,
"alphamissense_score": 0.2668,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14016437530517578,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 331,
"aa_ref": "I",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 833,
"cds_end": null,
"cds_length": 996,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_145639.2",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Ile220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424878.4",
"protein_coding": true,
"protein_id": "NP_663614.1",
"strand": false,
"transcript": "NM_145639.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 331,
"aa_ref": "I",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 833,
"cds_end": null,
"cds_length": 996,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000424878.4",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Ile220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145639.2",
"protein_coding": true,
"protein_id": "ENSP00000415779.3",
"strand": false,
"transcript": "ENST00000424878.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 402,
"aa_ref": "I",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1209,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000349314.7",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.872T>C",
"hgvs_p": "p.Ile291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344577.2",
"strand": false,
"transcript": "ENST00000349314.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 202,
"aa_ref": "I",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 609,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000361710.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Ile91Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355164.2",
"strand": false,
"transcript": "ENST00000361710.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 202,
"aa_ref": "I",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 2419,
"cds_end": null,
"cds_length": 609,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000397287.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.272T>C",
"hgvs_p": "p.Ile91Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380456.2",
"strand": false,
"transcript": "ENST00000397287.6",
"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": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000397289.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*675T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380457.2",
"strand": false,
"transcript": "ENST00000397289.6",
"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": 2327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000422426.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*833T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409345.1",
"strand": false,
"transcript": "ENST00000422426.5",
"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": 2443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432700.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*949T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416732.1",
"strand": false,
"transcript": "ENST00000432700.5",
"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": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000397289.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*675T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380457.2",
"strand": false,
"transcript": "ENST00000397289.6",
"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": 2327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000422426.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*833T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409345.1",
"strand": false,
"transcript": "ENST00000422426.5",
"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": 2443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432700.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*949T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416732.1",
"strand": false,
"transcript": "ENST00000432700.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 402,
"aa_ref": "I",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1209,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_145640.2",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.872T>C",
"hgvs_p": "p.Ile291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663615.1",
"strand": false,
"transcript": "NM_145640.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 332,
"aa_ref": "I",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 999,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393587.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Ile221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380516.1",
"strand": false,
"transcript": "NM_001393587.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 332,
"aa_ref": "I",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 949,
"cds_end": null,
"cds_length": 999,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393588.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Ile221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380517.1",
"strand": false,
"transcript": "NM_001393588.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 332,
"aa_ref": "I",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 855,
"cds_end": null,
"cds_length": 999,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393589.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Ile221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380518.1",
"strand": false,
"transcript": "NM_001393589.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 332,
"aa_ref": "I",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 999,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393590.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Ile221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380519.1",
"strand": false,
"transcript": "NM_001393590.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 332,
"aa_ref": "I",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 836,
"cds_end": null,
"cds_length": 999,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393591.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Ile221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380520.1",
"strand": false,
"transcript": "NM_001393591.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 332,
"aa_ref": "I",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 999,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393592.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Ile221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380521.1",
"strand": false,
"transcript": "NM_001393592.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 331,
"aa_ref": "I",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 895,
"cds_end": null,
"cds_length": 996,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393593.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Ile220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380522.1",
"strand": false,
"transcript": "NM_001393593.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 331,
"aa_ref": "I",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 989,
"cds_end": null,
"cds_length": 996,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393595.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Ile220Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380524.1",
"strand": false,
"transcript": "NM_001393595.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 331,
"aa_ref": "I",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 996,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001393596.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Ile220Thr",
"intron_rank": null,
"intron_rank_end": null,
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