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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: 19-49713585-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49713585&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CPT1C",
"hgnc_id": 18540,
"hgvs_c": "c.2458A>T",
"hgvs_p": "p.Met820Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001378482.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.077,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04873383045196533,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 2700,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001199753.2",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 2700,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000598293.6",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000323446.9",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 792,
"aa_ref": "M",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 2639,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000405931.6",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2359A>T",
"hgvs_p": "p.Met787Leu",
"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": "L",
"aa_end": null,
"aa_length": 336,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1011,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000595031.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.991A>T",
"hgvs_p": "p.Met331Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 825,
"aa_ref": "M",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 2766,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2458,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001378482.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2458A>T",
"hgvs_p": "p.Met820Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001199752.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 2741,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001378483.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001378484.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_152359.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 2764,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000392518.8",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 2676,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000878766.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000878767.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3663,
"cdna_start": 3517,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000941224.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "M",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2392,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000941225.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2392A>T",
"hgvs_p": "p.Met798Leu",
"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": "L",
"aa_end": null,
"aa_length": 792,
"aa_ref": "M",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 2667,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001136052.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2359A>T",
"hgvs_p": "p.Met787Leu",
"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": "L",
"aa_end": null,
"aa_length": 792,
"aa_ref": "M",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 2523,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001378485.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2359A>T",
"hgvs_p": "p.Met787Leu",
"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": "L",
"aa_end": null,
"aa_length": 792,
"aa_ref": "M",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 2596,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000878763.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2359A>T",
"hgvs_p": "p.Met787Leu",
"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": "L",
"aa_end": null,
"aa_length": 792,
"aa_ref": "M",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 2461,
"cds_end": null,
"cds_length": 2379,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929716.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2359A>T",
"hgvs_p": "p.Met787Leu",
"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": "L",
"aa_end": null,
"aa_length": 790,
"aa_ref": "M",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 2580,
"cds_end": null,
"cds_length": 2373,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929714.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.2353A>T",
"hgvs_p": "p.Met785Leu",
"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": "L",
"aa_end": null,
"aa_length": 769,
"aa_ref": "M",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 2310,
"cds_start": 2290,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
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