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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: 9-20360786-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=20360786&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 20360786,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004529.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.His463Tyr",
"transcript": "NM_004529.4",
"protein_id": "NP_004520.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 568,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": "ENST00000380338.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004529.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.His463Tyr",
"transcript": "ENST00000380338.9",
"protein_id": "ENSP00000369695.4",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 568,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": "NM_004529.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380338.9"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.His460Tyr",
"transcript": "NM_001286691.2",
"protein_id": "NP_001273620.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 565,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286691.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.His460Tyr",
"transcript": "ENST00000630269.2",
"protein_id": "ENSP00000485996.1",
"transcript_support_level": 2,
"aa_start": 460,
"aa_end": null,
"aa_length": 565,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630269.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.His57Tyr",
"transcript": "ENST00000380321.5",
"protein_id": "ENSP00000369678.1",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 162,
"cds_start": 169,
"cds_end": null,
"cds_length": 489,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380321.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.His57Tyr",
"transcript": "ENST00000629733.3",
"protein_id": "ENSP00000486193.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 138,
"cds_start": 169,
"cds_end": null,
"cds_length": 417,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629733.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.His50Tyr",
"transcript": "ENST00000469261.5",
"protein_id": "ENSP00000502424.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 107,
"cds_start": 148,
"cds_end": null,
"cds_length": 324,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469261.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.His57Tyr",
"transcript": "ENST00000491137.5",
"protein_id": "ENSP00000502590.1",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 66,
"cds_start": 169,
"cds_end": null,
"cds_length": 202,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491137.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "n.519C>T",
"hgvs_p": null,
"transcript": "ENST00000468513.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468513.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"hgvs_c": "n.92-5907C>T",
"hgvs_p": null,
"transcript": "ENST00000488705.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488705.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC124902129",
"gene_hgnc_id": null,
"hgvs_c": "n.3785-542G>A",
"hgvs_p": null,
"transcript": "XR_007061433.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061433.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC124902129",
"gene_hgnc_id": null,
"hgvs_c": "n.3880-542G>A",
"hgvs_p": null,
"transcript": "XR_007061434.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061434.1"
}
],
"gene_symbol": "MLLT3",
"gene_hgnc_id": 7136,
"dbsnp": "rs920527847",
"frequency_reference_population": 0.000009913062,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000547279,
"gnomad_genomes_af": 0.0000525431,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21519604325294495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.0882,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.031,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004529.4",
"gene_symbol": "MLLT3",
"hgnc_id": 7136,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.His463Tyr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_007061433.1",
"gene_symbol": "LOC124902129",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3785-542G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}