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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: 8-67158462-CAAAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67158462&ref=CAAAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 67158462,
"ref": "CAAAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000678616.1",
"consequences": [
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2259_2262delAAGA",
"hgvs_p": "p.Glu755fs",
"transcript": "NM_001382391.1",
"protein_id": "NP_001369320.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": "ENST00000678616.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2259_2262delAAGA",
"hgvs_p": "p.Glu755fs",
"transcript": "ENST00000678616.1",
"protein_id": "ENSP00000504733.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": "NM_001382391.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2325_2328delAAGA",
"hgvs_p": "p.Glu777fs",
"transcript": "ENST00000262210.11",
"protein_id": "ENSP00000262210.6",
"transcript_support_level": 1,
"aa_start": 775,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2325,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.1209_1212delAAGA",
"hgvs_p": "p.Glu405fs",
"transcript": "ENST00000519668.1",
"protein_id": "ENSP00000430092.1",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 876,
"cds_start": 1209,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "n.249_252delAAGA",
"hgvs_p": null,
"transcript": "ENST00000521168.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2367_2370delAAGA",
"hgvs_p": "p.Glu791fs",
"transcript": "ENST00000676605.1",
"protein_id": "ENSP00000503605.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 1262,
"cds_start": 2367,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2367_2370delAAGA",
"hgvs_p": "p.Glu791fs",
"transcript": "ENST00000678542.1",
"protein_id": "ENSP00000503878.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 1262,
"cds_start": 2367,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2349_2352delAAGA",
"hgvs_p": "p.Glu785fs",
"transcript": "ENST00000674993.1",
"protein_id": "ENSP00000502454.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2349,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2325_2328delAAGA",
"hgvs_p": "p.Glu777fs",
"transcript": "NM_001364869.1",
"protein_id": "NP_001351798.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2325,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 4775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2244_2247delAAGA",
"hgvs_p": "p.Glu750fs",
"transcript": "NM_024790.7",
"protein_id": "NP_079066.5",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2244,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 2251,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2244_2247delAAGA",
"hgvs_p": "p.Glu750fs",
"transcript": "ENST00000676317.1",
"protein_id": "ENSP00000502047.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2244,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2238_2241delAAGA",
"hgvs_p": "p.Glu748fs",
"transcript": "ENST00000676847.1",
"protein_id": "ENSP00000503336.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1219,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2226_2229delAAGA",
"hgvs_p": "p.Glu744fs",
"transcript": "ENST00000677592.1",
"protein_id": "ENSP00000504516.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2226,
"cds_end": null,
"cds_length": 3648,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 4864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2217_2220delAAGA",
"hgvs_p": "p.Glu741fs",
"transcript": "ENST00000676113.1",
"protein_id": "ENSP00000501645.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 1212,
"cds_start": 2217,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2178_2181delAAGA",
"hgvs_p": "p.Glu728fs",
"transcript": "NM_001363131.2",
"protein_id": "NP_001350060.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1199,
"cds_start": 2178,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2178_2181delAAGA",
"hgvs_p": "p.Glu728fs",
"transcript": "ENST00000675955.1",
"protein_id": "ENSP00000501676.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1199,
"cds_start": 2178,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2145_2148delAAGA",
"hgvs_p": "p.Glu717fs",
"transcript": "NM_001364870.1",
"protein_id": "NP_001351799.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2145,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2145_2148delAAGA",
"hgvs_p": "p.Glu717fs",
"transcript": "ENST00000676882.1",
"protein_id": "ENSP00000504342.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2145,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2136_2139delAAGA",
"hgvs_p": "p.Glu714fs",
"transcript": "ENST00000678645.1",
"protein_id": "ENSP00000504031.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
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"cds_start": 2136,
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"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2091_2094delAAGA",
"hgvs_p": "p.Glu699fs",
"transcript": "NM_001438330.1",
"protein_id": "NP_001425259.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2091,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2064_2067delAAGA",
"hgvs_p": "p.Glu690fs",
"transcript": "NM_001363132.2",
"protein_id": "NP_001350061.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2064,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSPP1",
"gene_hgnc_id": 26193,
"hgvs_c": "c.2064_2067delAAGA",
"hgvs_p": "p.Glu690fs",
"transcript": "ENST00000675869.1",
"protein_id": "ENSP00000502747.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2064,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QR",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
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],
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"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Pathogenic",
"transcript": "ENST00000678616.1",
"gene_symbol": "CSPP1",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "CSPP1-related disorder,Joubert syndrome 21,Meckel-Gruber syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Joubert syndrome 21|Meckel-Gruber syndrome|not provided|CSPP1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}