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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: 18-50918433-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50918433&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50918433,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000321341.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.734+220C>T",
"hgvs_p": null,
"transcript": "NM_002396.5",
"protein_id": "NP_002387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9031,
"mane_select": "ENST00000321341.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.734+220C>T",
"hgvs_p": null,
"transcript": "ENST00000321341.11",
"protein_id": "ENSP00000321070.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9031,
"mane_select": "NM_002396.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.734+220C>T",
"hgvs_p": null,
"transcript": "ENST00000382927.3",
"protein_id": "ENSP00000372384.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.734+220C>T",
"hgvs_p": null,
"transcript": "ENST00000638937.1",
"protein_id": "ENSP00000492393.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.623+220C>T",
"hgvs_p": null,
"transcript": "ENST00000640965.1",
"protein_id": "ENSP00000491954.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.734+220C>T",
"hgvs_p": null,
"transcript": "ENST00000639850.1",
"protein_id": "ENSP00000491152.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": -4,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.734+220C>T",
"hgvs_p": null,
"transcript": "ENST00000638410.1",
"protein_id": "ENSP00000492272.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.572+220C>T",
"hgvs_p": null,
"transcript": "ENST00000639255.1",
"protein_id": "ENSP00000492085.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "c.734+220C>T",
"hgvs_p": null,
"transcript": "NM_001168335.2",
"protein_id": "NP_001161807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.*256+220C>T",
"hgvs_p": null,
"transcript": "ENST00000585680.2",
"protein_id": "ENSP00000491793.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.1714+220C>T",
"hgvs_p": null,
"transcript": "ENST00000589330.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.*256+220C>T",
"hgvs_p": null,
"transcript": "ENST00000639115.1",
"protein_id": "ENSP00000492733.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
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"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.*94+220C>T",
"hgvs_p": null,
"transcript": "ENST00000639398.1",
"protein_id": "ENSP00000492309.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
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"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.*94+220C>T",
"hgvs_p": null,
"transcript": "ENST00000639612.1",
"protein_id": "ENSP00000492638.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.1118+220C>T",
"hgvs_p": null,
"transcript": "ENST00000639663.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.623+220C>T",
"hgvs_p": null,
"transcript": "ENST00000639665.1",
"protein_id": "ENSP00000491520.1",
"transcript_support_level": 5,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 6,
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"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.*256+220C>T",
"hgvs_p": null,
"transcript": "ENST00000639688.1",
"protein_id": "ENSP00000492377.1",
"transcript_support_level": 5,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.*94+220C>T",
"hgvs_p": null,
"transcript": "ENST00000640530.1",
"protein_id": "ENSP00000491724.1",
"transcript_support_level": 5,
"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.734+220C>T",
"hgvs_p": null,
"transcript": "ENST00000640967.1",
"protein_id": "ENSP00000492067.1",
"transcript_support_level": 5,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"hgvs_c": "n.937+220C>T",
"hgvs_p": null,
"transcript": "NR_174094.1",
"protein_id": null,
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"cdna_length": 8960,
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"feature": null
}
],
"gene_symbol": "ME2",
"gene_hgnc_id": 6984,
"dbsnp": "rs608986",
"frequency_reference_population": 0.0000065725476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.048,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000321341.11",
"gene_symbol": "ME2",
"hgnc_id": 6984,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.734+220C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}