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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: 19-49692265-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49692265&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CPT1C",
"hgnc_id": 18540,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001378482.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1071,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7329174280166626,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 321,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199753.2",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 321,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000598293.6",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 258,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000323446.9",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 293,
"cds_end": null,
"cds_length": 2379,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000405931.6",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 825,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 321,
"cds_end": null,
"cds_length": 2478,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001378482.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 385,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199752.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001378483.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 150,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001378484.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 252,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_152359.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 385,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000392518.8",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 297,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878766.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
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"aa_length": 803,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 187,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878767.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548826.1",
"strand": true,
"transcript": "ENST00000878767.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 803,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3663,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000941224.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
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"aa_length": 803,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 134,
"cds_end": null,
"cds_length": 2412,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000941225.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
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"aa_length": 792,
"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 321,
"cds_end": null,
"cds_length": 2379,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001136052.3",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"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": "Y",
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"aa_length": 792,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 177,
"cds_end": null,
"cds_length": 2379,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001378485.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"intron_rank": null,
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"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": "Y",
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"aa_length": 792,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 250,
"cds_end": null,
"cds_length": 2379,
"cds_start": 13,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878763.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548822.1",
"strand": true,
"transcript": "ENST00000878763.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": 13,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929716.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599775.1",
"strand": true,
"transcript": "ENST00000929716.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 240,
"cds_end": null,
"cds_length": 2373,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929714.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599773.1",
"strand": true,
"transcript": "ENST00000929714.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 769,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2310,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878765.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548824.1",
"strand": true,
"transcript": "ENST00000878765.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 769,
"aa_ref": "H",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 258,
"cds_end": null,
"cds_length": 2310,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929712.1",
"gene_hgnc_id": 18540,
"gene_symbol": "CPT1C",
"hgvs_c": "c.13C>T",
"hgvs_p": "p.His5Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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