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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: 19-6213982-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6213982&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6213982,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005934.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "NM_005934.4",
"protein_id": "NP_005925.2",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 559,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": "ENST00000252674.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005934.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000252674.9",
"protein_id": "ENSP00000252674.6",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 559,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": "NM_005934.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252674.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Arg413His",
"transcript": "ENST00000867663.1",
"protein_id": "ENSP00000537722.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 517,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 4264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867663.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412His",
"transcript": "ENST00000943587.1",
"protein_id": "ENSP00000613646.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 516,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943587.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319His",
"transcript": "ENST00000943586.1",
"protein_id": "ENSP00000613645.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 423,
"cds_start": 956,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943586.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77His",
"transcript": "ENST00000585588.2",
"protein_id": "ENSP00000519594.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 181,
"cds_start": 230,
"cds_end": null,
"cds_length": 546,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585588.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "XM_011528021.1",
"protein_id": "XP_011526323.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 600,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528021.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Arg457His",
"transcript": "XM_011528022.2",
"protein_id": "XP_011526324.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 561,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528022.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1361G>A",
"hgvs_p": "p.Arg454His",
"transcript": "XM_011528023.1",
"protein_id": "XP_011526325.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 558,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528023.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423His",
"transcript": "XM_017026819.3",
"protein_id": "XP_016882308.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 527,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026819.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "MLLT1",
"gene_hgnc_id": 7134,
"hgvs_c": "c.1238G>A",
"hgvs_p": "p.Arg413His",
"transcript": "XM_047438846.1",
"protein_id": "XP_047294802.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 517,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438846.1"
}
],
"gene_symbol": "MLLT1",
"gene_hgnc_id": 7134,
"dbsnp": "rs374247122",
"frequency_reference_population": 0.000011654436,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000918375,
"gnomad_genomes_af": 0.0000328913,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5926833152770996,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.0829,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.949,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005934.4",
"gene_symbol": "MLLT1",
"hgnc_id": 7134,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His"
}
],
"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
}