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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: 10-114300226-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114300226&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AFAP1L2",
"hgnc_id": 25901,
"hgvs_c": "c.2084C>G",
"hgvs_p": "p.Pro695Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001287824.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1148,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22165167331695557,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 818,
"aa_ref": "P",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1925,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001001936.3",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.1925C>G",
"hgvs_p": "p.Pro642Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304129.9",
"protein_coding": true,
"protein_id": "NP_001001936.1",
"strand": false,
"transcript": "NM_001001936.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 818,
"aa_ref": "P",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1925,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000304129.9",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.1925C>G",
"hgvs_p": "p.Pro642Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001936.3",
"protein_coding": true,
"protein_id": "ENSP00000303042.4",
"strand": false,
"transcript": "ENST00000304129.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 814,
"aa_ref": "P",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3964,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1925,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000369271.7",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.1925C>G",
"hgvs_p": "p.Pro642Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358276.3",
"strand": false,
"transcript": "ENST00000369271.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 2242,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2168,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000941481.1",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2168C>G",
"hgvs_p": "p.Pro723Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611540.1",
"strand": false,
"transcript": "ENST00000941481.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 871,
"aa_ref": "P",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001287824.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2084C>G",
"hgvs_p": "p.Pro695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274753.1",
"strand": false,
"transcript": "NM_001287824.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 870,
"aa_ref": "P",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2081,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000853964.1",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2081C>G",
"hgvs_p": "p.Pro694Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524023.1",
"strand": false,
"transcript": "ENST00000853964.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": 2134,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000853966.1",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2084C>G",
"hgvs_p": "p.Pro695Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524025.1",
"strand": false,
"transcript": "ENST00000853966.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 864,
"aa_ref": "P",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2063,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000853965.1",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2063C>G",
"hgvs_p": "p.Pro688Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524024.1",
"strand": false,
"transcript": "ENST00000853965.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 846,
"aa_ref": "P",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2541,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001351065.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2009C>G",
"hgvs_p": "p.Pro670Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337994.1",
"strand": false,
"transcript": "NM_001351065.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 846,
"aa_ref": "P",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4029,
"cdna_start": 2283,
"cds_end": null,
"cds_length": 2541,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000941480.1",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2009C>G",
"hgvs_p": "p.Pro670Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611539.1",
"strand": false,
"transcript": "ENST00000941480.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 845,
"aa_ref": "P",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3803,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001351077.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2006C>G",
"hgvs_p": "p.Pro669Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338006.1",
"strand": false,
"transcript": "NM_001351077.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 845,
"aa_ref": "P",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000853967.1",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2006C>G",
"hgvs_p": "p.Pro669Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524026.1",
"strand": false,
"transcript": "ENST00000853967.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 842,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001351078.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2009C>G",
"hgvs_p": "p.Pro670Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338007.1",
"strand": false,
"transcript": "NM_001351078.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 842,
"aa_ref": "P",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2529,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000696688.1",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2009C>G",
"hgvs_p": "p.Pro670Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512810.1",
"strand": false,
"transcript": "ENST00000696688.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 841,
"aa_ref": "P",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001351079.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.2006C>G",
"hgvs_p": "p.Pro669Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338008.1",
"strand": false,
"transcript": "NM_001351079.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 835,
"aa_ref": "P",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001351067.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.1976C>G",
"hgvs_p": "p.Pro659Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337996.1",
"strand": false,
"transcript": "NM_001351067.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 832,
"aa_ref": "P",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 2026,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1979,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001351068.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.1979C>G",
"hgvs_p": "p.Pro660Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337997.1",
"strand": false,
"transcript": "NM_001351068.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 831,
"aa_ref": "P",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2496,
"cds_start": 1976,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001351064.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.1976C>G",
"hgvs_p": "p.Pro659Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337993.1",
"strand": false,
"transcript": "NM_001351064.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 817,
"aa_ref": "P",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3719,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1922,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001351069.2",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.1922C>G",
"hgvs_p": "p.Pro641Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337998.1",
"strand": false,
"transcript": "NM_001351069.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 817,
"aa_ref": "P",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5141,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1922,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000853960.1",
"gene_hgnc_id": 25901,
"gene_symbol": "AFAP1L2",
"hgvs_c": "c.1922C>G",
"hgvs_p": "p.Pro641Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524019.1",
"strand": false,
"transcript": "ENST00000853960.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 814,
"aa_ref": "P",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3710,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1925,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_032550.4",
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