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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: 1-159054878-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159054878&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IFI16",
"hgnc_id": 5395,
"hgvs_c": "c.2335A>T",
"hgvs_p": "p.Thr779Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001364867.2",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "AIM2",
"hgnc_id": 357,
"hgvs_c": "n.*173T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "XR_001737544.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 225705,
"alphamissense_prediction": null,
"alphamissense_score": 0.134,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005023747682571411,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 785,
"aa_ref": "T",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 2610,
"cds_end": null,
"cds_length": 2358,
"cds_start": 2335,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001376587.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2335A>T",
"hgvs_p": "p.Thr779Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000295809.12",
"protein_coding": true,
"protein_id": "NP_001363516.1",
"strand": true,
"transcript": "NM_001376587.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 785,
"aa_ref": "T",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 2610,
"cds_end": null,
"cds_length": 2358,
"cds_start": 2335,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000295809.12",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2335A>T",
"hgvs_p": "p.Thr779Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001376587.1",
"protein_coding": true,
"protein_id": "ENSP00000295809.7",
"strand": true,
"transcript": "ENST00000295809.12",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000368131.8",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357113.4",
"strand": true,
"transcript": "ENST00000368131.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000368132.7",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357114.3",
"strand": true,
"transcript": "ENST00000368132.7",
"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": 4138,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000483916.2",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "n.3865A>T",
"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": "ENST00000483916.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 787,
"aa_ref": "T",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 2364,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000902834.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2341A>T",
"hgvs_p": "p.Thr781Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572893.1",
"strand": true,
"transcript": "ENST00000902834.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 787,
"aa_ref": "T",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 2364,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000902837.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2341A>T",
"hgvs_p": "p.Thr781Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572896.1",
"strand": true,
"transcript": "ENST00000902837.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 785,
"aa_ref": "T",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 2934,
"cds_end": null,
"cds_length": 2358,
"cds_start": 2335,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001364867.2",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2335A>T",
"hgvs_p": "p.Thr779Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351796.1",
"strand": true,
"transcript": "NM_001364867.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 785,
"aa_ref": "T",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 2358,
"cds_start": 2335,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000902828.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2335A>T",
"hgvs_p": "p.Thr779Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572887.1",
"strand": true,
"transcript": "ENST00000902828.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 785,
"aa_ref": "T",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 3107,
"cds_end": null,
"cds_length": 2358,
"cds_start": 2335,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000946384.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2335A>T",
"hgvs_p": "p.Thr779Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616443.1",
"strand": true,
"transcript": "ENST00000946384.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 778,
"aa_ref": "T",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000902829.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2314A>T",
"hgvs_p": "p.Thr772Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572888.1",
"strand": true,
"transcript": "ENST00000902829.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 731,
"aa_ref": "T",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 2448,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902831.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2173A>T",
"hgvs_p": "p.Thr725Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572890.1",
"strand": true,
"transcript": "ENST00000902831.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001206567.2",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193496.1",
"strand": true,
"transcript": "NM_001206567.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 2766,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001376588.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363517.1",
"strand": true,
"transcript": "NM_001376588.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 2581,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001376589.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363518.1",
"strand": true,
"transcript": "NM_001376589.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005531.3",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005522.2",
"strand": true,
"transcript": "NM_005531.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000359709.7",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352740.3",
"strand": true,
"transcript": "ENST00000359709.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 2964,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000946383.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616442.1",
"strand": true,
"transcript": "ENST00000946383.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 729,
"aa_ref": "T",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3030,
"cdna_start": 2759,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000946385.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2167A>T",
"hgvs_p": "p.Thr723Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616444.1",
"strand": true,
"transcript": "ENST00000946385.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2713,
"cdna_start": 2436,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902830.1",
"gene_hgnc_id": 5395,
"gene_symbol": "IFI16",
"hgvs_c": "c.2161A>T",
"hgvs_p": "p.Thr721Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572889.1",
"strand": true,
"transcript": "ENST00000902830.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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