← Back to variant description
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: 19-15914611-TG-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15914611&ref=TG&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP4F11",
"hgnc_id": 13265,
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_021187.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"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": "L",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021187.4",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402119.9",
"protein_coding": true,
"protein_id": "NP_067010.3",
"strand": false,
"transcript": "NM_021187.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402119.9",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021187.4",
"protein_coding": true,
"protein_id": "ENSP00000384588.2",
"strand": false,
"transcript": "ENST00000402119.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000248041.12",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000248041.6",
"strand": false,
"transcript": "ENST00000248041.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": null,
"cds_end": null,
"cds_length": 1365,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000326742.12",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1249+150_1249+151delCAinsTC",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319859.7",
"strand": false,
"transcript": "ENST00000326742.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904116.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574175.1",
"strand": false,
"transcript": "ENST00000904116.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 525,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904125.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574184.1",
"strand": false,
"transcript": "ENST00000904125.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128932.2",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122404.1",
"strand": false,
"transcript": "NM_001128932.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904118.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574177.1",
"strand": false,
"transcript": "ENST00000904118.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904123.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1304_1305delCAinsTC",
"hgvs_p": "p.Pro435Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574182.1",
"strand": false,
"transcript": "ENST00000904123.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 506,
"aa_ref": "P",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904117.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1250_1251delCAinsTC",
"hgvs_p": "p.Pro417Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574176.1",
"strand": false,
"transcript": "ENST00000904117.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 506,
"aa_ref": "P",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904126.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1250_1251delCAinsTC",
"hgvs_p": "p.Pro417Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574185.1",
"strand": false,
"transcript": "ENST00000904126.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904124.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1178_1179delCAinsTC",
"hgvs_p": "p.Pro393Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574183.1",
"strand": false,
"transcript": "ENST00000904124.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 482,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904119.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1178_1179delCAinsTC",
"hgvs_p": "p.Pro393Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574178.1",
"strand": false,
"transcript": "ENST00000904119.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 482,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1571,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904120.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1178_1179delCAinsTC",
"hgvs_p": "p.Pro393Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574179.1",
"strand": false,
"transcript": "ENST00000904120.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 482,
"aa_ref": "P",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904122.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1178_1179delCAinsTC",
"hgvs_p": "p.Pro393Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574181.1",
"strand": false,
"transcript": "ENST00000904122.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1182,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904121.1",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.911_912delCAinsTC",
"hgvs_p": "p.Pro304Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574180.1",
"strand": false,
"transcript": "ENST00000904121.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 454,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": null,
"cds_end": null,
"cds_length": 1365,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620614.4",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "c.1249+150_1249+151delCAinsTC",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481243.1",
"strand": false,
"transcript": "ENST00000620614.4",
"transcript_support_level": 5
},
{
"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": 2531,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000591841.2",
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"hgvs_c": "n.1467_1468delCAinsTC",
"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": "ENST00000591841.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13265,
"gene_symbol": "CYP4F11",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.943,
"pos": 15914611,
"ref": "TG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_021187.4"
}
]
}