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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: 1-78628271-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=78628271&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IFI44L",
"hgnc_id": 17817,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_006820.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 297,
"alphamissense_prediction": null,
"alphamissense_score": 0.1136,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.027322202920913696,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5829,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006820.4",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370751.10",
"protein_coding": true,
"protein_id": "NP_006811.2",
"strand": true,
"transcript": "NM_006820.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5829,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000370751.10",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006820.4",
"protein_coding": true,
"protein_id": "ENSP00000359787.4",
"strand": true,
"transcript": "ENST00000370751.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000459784.6",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.-296-680C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506096.1",
"strand": true,
"transcript": "ENST00000459784.6",
"transcript_support_level": 3
},
{
"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": 5152,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000486882.5",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "n.2602C>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": "ENST00000486882.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5857,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001375646.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362575.1",
"strand": true,
"transcript": "NM_001375646.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869072.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539131.1",
"strand": true,
"transcript": "ENST00000869072.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869073.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539132.1",
"strand": true,
"transcript": "ENST00000869073.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000869074.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539133.1",
"strand": true,
"transcript": "ENST00000869074.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000971551.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641610.1",
"strand": true,
"transcript": "ENST00000971551.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971552.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641611.1",
"strand": true,
"transcript": "ENST00000971552.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 773,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971553.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641612.1",
"strand": true,
"transcript": "ENST00000971553.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1359,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971554.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641613.1",
"strand": true,
"transcript": "ENST00000971554.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 431,
"aa_ref": "T",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1296,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000869071.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539130.1",
"strand": true,
"transcript": "ENST00000869071.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 232,
"aa_ref": "T",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 849,
"cdna_start": 287,
"cds_end": null,
"cds_length": 699,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000450498.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Thr96Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400784.1",
"strand": true,
"transcript": "ENST00000450498.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5341,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375647.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.-296-680C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362576.1",
"strand": true,
"transcript": "NM_001375647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375648.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.-51-7066C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362577.1",
"strand": true,
"transcript": "NM_001375648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375649.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.-100-680C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362578.1",
"strand": true,
"transcript": "NM_001375649.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5369,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375650.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.-296-680C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362579.1",
"strand": true,
"transcript": "NM_001375650.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679848.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.-296-680C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506000.1",
"strand": true,
"transcript": "ENST00000679848.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679998.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.-296-680C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504938.1",
"strand": true,
"transcript": "ENST00000679998.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": null,
"cds_end": null,
"cds_length": 585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680110.1",
"gene_hgnc_id": 17817,
"gene_symbol": "IFI44L",
"hgvs_c": "c.-46-7071C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505974.1",
"strand": true,
"transcript": "ENST00000680110.1",
"transcript_support_level": null
},
{
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