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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: 17-46033427-CCC-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46033427&ref=CCC&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "KANSL1",
"hgnc_id": 24565,
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015443.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"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": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "G",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": 3396,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015443.4",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000432791.7",
"protein_coding": true,
"protein_id": "NP_056258.1",
"strand": false,
"transcript": "NM_015443.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "G",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": 3396,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432791.7",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015443.4",
"protein_coding": true,
"protein_id": "ENSP00000387393.3",
"strand": false,
"transcript": "ENST00000432791.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "G",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5309,
"cdna_start": 3171,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262419.10",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262419.6",
"strand": false,
"transcript": "ENST00000262419.10",
"transcript_support_level": 1
},
{
"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": 9095,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000572218.5",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "n.6915_6917delGGGinsCGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000572218.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1122,
"aa_ref": "G",
"aa_start": 917,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 3429,
"cds_end": null,
"cds_length": 3369,
"cds_start": 2749,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918919.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2749_2751delGGGinsCGA",
"hgvs_p": "p.Gly917Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588978.1",
"strand": false,
"transcript": "ENST00000918919.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "G",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5331,
"cdna_start": 3153,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193466.2",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180395.1",
"strand": false,
"transcript": "NM_001193466.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "G",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5128,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379198.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366127.1",
"strand": false,
"transcript": "NM_001379198.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "G",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5300,
"cdna_start": 3122,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405854.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392783.1",
"strand": false,
"transcript": "NM_001405854.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "G",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5268,
"cdna_start": 3090,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405855.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392784.1",
"strand": false,
"transcript": "NM_001405855.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "G",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4973,
"cdna_start": 2795,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2698,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572904.6",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2698_2700delGGGinsCGA",
"hgvs_p": "p.Gly900Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461484.1",
"strand": false,
"transcript": "ENST00000572904.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "G",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5125,
"cdna_start": 2947,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193465.2",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2695_2697delGGGinsCGA",
"hgvs_p": "p.Gly899Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180394.1",
"strand": false,
"transcript": "NM_001193465.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "G",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405856.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2695_2697delGGGinsCGA",
"hgvs_p": "p.Gly899Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392785.1",
"strand": false,
"transcript": "NM_001405856.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "G",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5571,
"cdna_start": 3393,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405857.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2695_2697delGGGinsCGA",
"hgvs_p": "p.Gly899Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392786.1",
"strand": false,
"transcript": "NM_001405857.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "G",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5265,
"cdna_start": 3087,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405858.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2695_2697delGGGinsCGA",
"hgvs_p": "p.Gly899Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392787.1",
"strand": false,
"transcript": "NM_001405858.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "G",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5147,
"cdna_start": 2969,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574590.6",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2695_2697delGGGinsCGA",
"hgvs_p": "p.Gly899Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461812.2",
"strand": false,
"transcript": "ENST00000574590.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "G",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5097,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902802.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2695_2697delGGGinsCGA",
"hgvs_p": "p.Gly899Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572861.1",
"strand": false,
"transcript": "ENST00000902802.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1104,
"aa_ref": "G",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5360,
"cdna_start": 3182,
"cds_end": null,
"cds_length": 3315,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902804.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2695_2697delGGGinsCGA",
"hgvs_p": "p.Gly899Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572863.1",
"strand": false,
"transcript": "ENST00000902804.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "G",
"aa_start": 897,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4721,
"cdna_start": 2749,
"cds_end": null,
"cds_length": 3309,
"cds_start": 2689,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902805.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2689_2691delGGGinsCGA",
"hgvs_p": "p.Gly897Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572864.1",
"strand": false,
"transcript": "ENST00000902805.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "G",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5026,
"cdna_start": 2848,
"cds_end": null,
"cds_length": 3216,
"cds_start": 2596,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405859.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2596_2598delGGGinsCGA",
"hgvs_p": "p.Gly866Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392788.1",
"strand": false,
"transcript": "NM_001405859.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "G",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5472,
"cdna_start": 3294,
"cds_end": null,
"cds_length": 3216,
"cds_start": 2596,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001405860.1",
"gene_hgnc_id": 24565,
"gene_symbol": "KANSL1",
"hgvs_c": "c.2596_2598delGGGinsCGA",
"hgvs_p": "p.Gly866Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001392789.1",
"strand": false,
"transcript": "NM_001405860.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "G",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 2848,
"cds_end": null,
"cds_length": 3216,
"cds_start": 2596,
"consequences": [
"missense_variant"
],
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