← 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: 19-6214027-CT-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6214027&ref=CT&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MLLT1",
"hgnc_id": 7134,
"hgvs_c": "c.1318_1319delAGinsTC",
"hgvs_p": "p.441",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005934.4",
"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": "S",
"aa_end": null,
"aa_length": 559,
"aa_ref": "S",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1318,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005934.4",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1318_1319delAGinsTC",
"hgvs_p": "p.441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252674.9",
"protein_coding": true,
"protein_id": "NP_005925.2",
"strand": false,
"transcript": "NM_005934.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 559,
"aa_ref": "S",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1318,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000252674.9",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1318_1319delAGinsTC",
"hgvs_p": "p.441",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005934.4",
"protein_coding": true,
"protein_id": "ENSP00000252674.6",
"strand": false,
"transcript": "ENST00000252674.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 517,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4264,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1192,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867663.1",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1192_1193delAGinsTC",
"hgvs_p": "p.399",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537722.1",
"strand": false,
"transcript": "ENST00000867663.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 516,
"aa_ref": "S",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1189,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943587.1",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1189_1190delAGinsTC",
"hgvs_p": "p.398",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613646.1",
"strand": false,
"transcript": "ENST00000943587.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 423,
"aa_ref": "S",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1272,
"cds_start": 910,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943586.1",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.910_911delAGinsTC",
"hgvs_p": "p.305",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613645.1",
"strand": false,
"transcript": "ENST00000943586.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 181,
"aa_ref": "S",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 443,
"cds_end": null,
"cds_length": 546,
"cds_start": 184,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585588.2",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.184_185delAGinsTC",
"hgvs_p": "p.63",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519594.1",
"strand": false,
"transcript": "ENST00000585588.2",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "S",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1441,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011528021.1",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1441_1442delAGinsTC",
"hgvs_p": "p.482",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526323.1",
"strand": false,
"transcript": "XM_011528021.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 561,
"aa_ref": "S",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1324,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011528022.2",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1324_1325delAGinsTC",
"hgvs_p": "p.443",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526324.1",
"strand": false,
"transcript": "XM_011528022.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 558,
"aa_ref": "S",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1315,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011528023.1",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1315_1316delAGinsTC",
"hgvs_p": "p.440",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526325.1",
"strand": false,
"transcript": "XM_011528023.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1222,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026819.3",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1222_1223delAGinsTC",
"hgvs_p": "p.409",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882308.1",
"strand": false,
"transcript": "XM_017026819.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 517,
"aa_ref": "S",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1192,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438846.1",
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"hgvs_c": "c.1192_1193delAGinsTC",
"hgvs_p": "p.399",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294802.1",
"strand": false,
"transcript": "XM_047438846.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7134,
"gene_symbol": "MLLT1",
"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": 3.703,
"pos": 6214027,
"ref": "CT",
"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_005934.4"
}
]
}