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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: 17-65533926-TT-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=65533926&ref=TT&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AXIN2",
"hgnc_id": 904,
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_004655.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4260,
"cdna_start": 2706,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004655.4",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307078.10",
"protein_coding": true,
"protein_id": "NP_004646.3",
"strand": false,
"transcript": "NM_004655.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4260,
"cdna_start": 2706,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000307078.10",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004655.4",
"protein_coding": true,
"protein_id": "ENSP00000302625.5",
"strand": false,
"transcript": "ENST00000307078.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "K",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375702.5",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2195_2196delAAinsCG",
"hgvs_p": "p.Lys732Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364854.5",
"strand": false,
"transcript": "ENST00000375702.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881031.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551090.1",
"strand": false,
"transcript": "ENST00000881031.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881032.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551091.1",
"strand": false,
"transcript": "ENST00000881032.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4856,
"cdna_start": 3302,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881033.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551092.1",
"strand": false,
"transcript": "ENST00000881033.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 3124,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881034.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551093.1",
"strand": false,
"transcript": "ENST00000881034.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881035.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551094.1",
"strand": false,
"transcript": "ENST00000881035.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 796,
"aa_ref": "K",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 2391,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936614.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2249_2250delAAinsCG",
"hgvs_p": "p.Lys750Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606673.1",
"strand": false,
"transcript": "ENST00000936614.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "K",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 2511,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363813.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2195_2196delAAinsCG",
"hgvs_p": "p.Lys732Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350742.1",
"strand": false,
"transcript": "NM_001363813.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "K",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4060,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618960.4",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2195_2196delAAinsCG",
"hgvs_p": "p.Lys732Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478916.1",
"strand": false,
"transcript": "ENST00000618960.4",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 731,
"aa_ref": "K",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936615.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2054_2055delAAinsCG",
"hgvs_p": "p.Lys685Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606674.1",
"strand": false,
"transcript": "ENST00000936615.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4414,
"cdna_start": 2860,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525319.3",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523621.1",
"strand": false,
"transcript": "XM_011525319.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4425,
"cdna_start": 2871,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525320.2",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523622.1",
"strand": false,
"transcript": "XM_011525320.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4863,
"cdna_start": 3309,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525321.3",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523623.1",
"strand": false,
"transcript": "XM_011525321.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4288,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025192.2",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880681.1",
"strand": false,
"transcript": "XM_017025192.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 843,
"aa_ref": "K",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 2532,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436870.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2390_2391delAAinsCG",
"hgvs_p": "p.Lys797Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292826.1",
"strand": false,
"transcript": "XM_047436870.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "K",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": 2676,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017025193.2",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2195_2196delAAinsCG",
"hgvs_p": "p.Lys732Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880682.1",
"strand": false,
"transcript": "XM_017025193.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "K",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4668,
"cdna_start": 3114,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436871.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2195_2196delAAinsCG",
"hgvs_p": "p.Lys732Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292827.1",
"strand": false,
"transcript": "XM_047436871.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "K",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436872.1",
"gene_hgnc_id": 904,
"gene_symbol": "AXIN2",
"hgvs_c": "c.2195_2196delAAinsCG",
"hgvs_p": "p.Lys732Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292828.1",
"strand": false,
"transcript": "XM_047436872.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "K",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4219,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2195,
"consequences": [
"missense_variant"
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