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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: 20-49072400-ACA-GCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=49072400&ref=ACA&alt=GCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSE1L",
"hgnc_id": 2431,
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001316.4",
"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": "GCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"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": "A",
"aa_end": null,
"aa_length": 971,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 2916,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001316.4",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262982.3",
"protein_coding": true,
"protein_id": "NP_001307.2",
"strand": true,
"transcript": "NM_001316.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 971,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 2916,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262982.3",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001316.4",
"protein_coding": true,
"protein_id": "ENSP00000262982.2",
"strand": true,
"transcript": "ENST00000262982.3",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 971,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 2916,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889064.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559123.1",
"strand": true,
"transcript": "ENST00000889064.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 971,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3546,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 2916,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933032.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603091.1",
"strand": true,
"transcript": "ENST00000933032.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 971,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 2916,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933040.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603099.1",
"strand": true,
"transcript": "ENST00000933040.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 970,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 2913,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933031.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603090.1",
"strand": true,
"transcript": "ENST00000933031.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 977,
"cds_end": null,
"cds_length": 2907,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966735.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636794.1",
"strand": true,
"transcript": "ENST00000966735.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 963,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3453,
"cdna_start": 997,
"cds_end": null,
"cds_length": 2892,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889066.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559125.1",
"strand": true,
"transcript": "ENST00000889066.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 957,
"aa_ref": "T",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 959,
"cds_end": null,
"cds_length": 2874,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889068.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.841_843delACAinsGCC",
"hgvs_p": "p.Thr281Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559127.1",
"strand": true,
"transcript": "ENST00000889068.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 954,
"aa_ref": "T",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 970,
"cds_end": null,
"cds_length": 2865,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889063.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.832_834delACAinsGCC",
"hgvs_p": "p.Thr278Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559122.1",
"strand": true,
"transcript": "ENST00000889063.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 948,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 2847,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889062.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559121.1",
"strand": true,
"transcript": "ENST00000889062.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 945,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 2838,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001362762.2",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349691.1",
"strand": true,
"transcript": "NM_001362762.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 945,
"aa_ref": "T",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 924,
"cds_end": null,
"cds_length": 2838,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933038.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.805_807delACAinsGCC",
"hgvs_p": "p.Thr269Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603097.1",
"strand": true,
"transcript": "ENST00000933038.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 943,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": 998,
"cds_end": null,
"cds_length": 2832,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889070.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559129.1",
"strand": true,
"transcript": "ENST00000889070.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 937,
"aa_ref": "T",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 891,
"cds_end": null,
"cds_length": 2814,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966734.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.781_783delACAinsGCC",
"hgvs_p": "p.Thr261Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636793.1",
"strand": true,
"transcript": "ENST00000966734.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 904,
"aa_ref": "T",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3013,
"cdna_start": 830,
"cds_end": null,
"cds_length": 2715,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889067.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.682_684delACAinsGCC",
"hgvs_p": "p.Thr228Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559126.1",
"strand": true,
"transcript": "ENST00000889067.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "T",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 757,
"cds_end": null,
"cds_length": 2673,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933039.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.640_642delACAinsGCC",
"hgvs_p": "p.Thr214Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603098.1",
"strand": true,
"transcript": "ENST00000933039.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 858,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 2577,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889065.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559124.1",
"strand": true,
"transcript": "ENST00000889065.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 851,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 2556,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933037.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.883_885delACAinsGCC",
"hgvs_p": "p.Thr295Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603096.1",
"strand": true,
"transcript": "ENST00000933037.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 805,
"aa_ref": "T",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 503,
"cds_end": null,
"cds_length": 2418,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933033.1",
"gene_hgnc_id": 2431,
"gene_symbol": "CSE1L",
"hgvs_c": "c.385_387delACAinsGCC",
"hgvs_p": "p.Thr129Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603092.1",
"strand": true,
"transcript": "ENST00000933033.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 738,
"aa_ref": "T",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 2217,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933036.1",
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