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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: 19-49711857-GCT-ACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49711857&ref=GCT&alt=ACA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CPT1C",
"hgnc_id": 18540,
"hgvs_c": "c.1981_1983delGCTinsACA",
"hgvs_p": "p.Ala661Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001378482.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199753.2",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000598293.6",
"protein_coding": true,
"protein_id": "NP_001186682.1",
"strand": true,
"transcript": "NM_001199753.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000598293.6",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001199753.2",
"protein_coding": true,
"protein_id": "ENSP00000473028.1",
"strand": true,
"transcript": "ENST00000598293.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 2160,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000323446.9",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319343.4",
"strand": true,
"transcript": "ENST00000323446.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 792,
"aa_ref": "A",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000405931.6",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1882_1884delGCTinsACA",
"hgvs_p": "p.Ala628Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384465.2",
"strand": true,
"transcript": "ENST00000405931.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 336,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": null,
"cds_end": null,
"cds_length": 1011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000595031.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.732+1000_732+1002delGCTinsACA",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472579.1",
"strand": true,
"transcript": "ENST00000595031.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 825,
"aa_ref": "A",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1981,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378482.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1981_1983delGCTinsACA",
"hgvs_p": "p.Ala661Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365411.1",
"strand": true,
"transcript": "NM_001378482.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199752.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186681.1",
"strand": true,
"transcript": "NM_001199752.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378483.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365412.1",
"strand": true,
"transcript": "NM_001378483.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378484.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365413.1",
"strand": true,
"transcript": "NM_001378484.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152359.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689572.1",
"strand": true,
"transcript": "NM_152359.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392518.8",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376303.4",
"strand": true,
"transcript": "ENST00000392518.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878766.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548825.1",
"strand": true,
"transcript": "ENST00000878766.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878767.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548826.1",
"strand": true,
"transcript": "ENST00000878767.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3663,
"cdna_start": 3040,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941224.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611283.1",
"strand": true,
"transcript": "ENST00000941224.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941225.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1915_1917delGCTinsACA",
"hgvs_p": "p.Ala639Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611284.1",
"strand": true,
"transcript": "ENST00000941225.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 792,
"aa_ref": "A",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136052.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1882_1884delGCTinsACA",
"hgvs_p": "p.Ala628Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129524.1",
"strand": true,
"transcript": "NM_001136052.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 792,
"aa_ref": "A",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378485.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1882_1884delGCTinsACA",
"hgvs_p": "p.Ala628Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365414.1",
"strand": true,
"transcript": "NM_001378485.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 792,
"aa_ref": "A",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878763.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1882_1884delGCTinsACA",
"hgvs_p": "p.Ala628Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548822.1",
"strand": true,
"transcript": "ENST00000878763.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 792,
"aa_ref": "A",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929716.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1882_1884delGCTinsACA",
"hgvs_p": "p.Ala628Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599775.1",
"strand": true,
"transcript": "ENST00000929716.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 790,
"aa_ref": "A",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929714.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.1876_1878delGCTinsACA",
"hgvs_p": "p.Ala626Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599773.1",
"strand": true,
"transcript": "ENST00000929714.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 769,
"aa_ref": "A",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 2109,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
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