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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: 7-152224063-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=152224063&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 152224063,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000262189.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3275G>A",
"hgvs_p": "p.Arg1092Gln",
"transcript": "NM_170606.3",
"protein_id": "NP_733751.2",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 4911,
"cds_start": 3275,
"cds_end": null,
"cds_length": 14736,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": "ENST00000262189.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3275G>A",
"hgvs_p": "p.Arg1092Gln",
"transcript": "ENST00000262189.11",
"protein_id": "ENSP00000262189.6",
"transcript_support_level": 1,
"aa_start": 1092,
"aa_end": null,
"aa_length": 4911,
"cds_start": 3275,
"cds_end": null,
"cds_length": 14736,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 16860,
"mane_select": "NM_170606.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.986G>A",
"hgvs_p": null,
"transcript": "ENST00000473186.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 12854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3275G>A",
"hgvs_p": "p.Arg1092Gln",
"transcript": "ENST00000682283.1",
"protein_id": "ENSP00000507485.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 4968,
"cds_start": 3275,
"cds_end": null,
"cds_length": 14907,
"cdna_start": 3275,
"cdna_end": null,
"cdna_length": 15426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3155G>A",
"hgvs_p": "p.Arg1052Gln",
"transcript": "ENST00000679882.1",
"protein_id": "ENSP00000506154.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 4762,
"cds_start": 3155,
"cds_end": null,
"cds_length": 14289,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 14469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000683200.1",
"protein_id": "ENSP00000508052.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 4054,
"cds_start": 623,
"cds_end": null,
"cds_length": 12165,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 15972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000680969.1",
"protein_id": "ENSP00000505951.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 2951,
"cds_start": 623,
"cds_end": null,
"cds_length": 8856,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 8856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659Gln",
"transcript": "ENST00000681033.1",
"protein_id": "ENSP00000505058.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 2716,
"cds_start": 1976,
"cds_end": null,
"cds_length": 8151,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 8151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3275G>A",
"hgvs_p": "p.Arg1092Gln",
"transcript": "ENST00000684550.1",
"protein_id": "ENSP00000507135.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3275,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 3635,
"cdna_end": null,
"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.3275G>A",
"hgvs_p": "p.Arg1092Gln",
"transcript": "ENST00000683490.1",
"protein_id": "ENSP00000507385.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1325,
"cds_start": 3275,
"cds_end": null,
"cds_length": 3978,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 5627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Gln",
"transcript": "ENST00000418673.2",
"protein_id": "ENSP00000403483.2",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 367,
"cds_start": 623,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.785G>A",
"hgvs_p": null,
"transcript": "ENST00000489110.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.623G>A",
"hgvs_p": null,
"transcript": "ENST00000681838.1",
"protein_id": "ENSP00000505661.1",
"transcript_support_level": null,
"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": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.2153G>A",
"hgvs_p": null,
"transcript": "ENST00000684623.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 34,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.2976+5860G>A",
"hgvs_p": null,
"transcript": "ENST00000679645.1",
"protein_id": "ENSP00000505745.1",
"transcript_support_level": null,
"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": 7662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"hgvs_c": "n.325-1381G>A",
"hgvs_p": null,
"transcript": "ENST00000684140.1",
"protein_id": "ENSP00000508026.1",
"transcript_support_level": null,
"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": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KMT2C",
"gene_hgnc_id": 13726,
"dbsnp": "rs150747860",
"frequency_reference_population": 0.00003289825,
"hom_count_reference_population": 1,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000239888,
"gnomad_genomes_af": 0.000118409,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08831483125686646,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.128,
"revel_prediction": "Benign",
"alphamissense_score": 0.0813,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.156,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000262189.11",
"gene_symbol": "KMT2C",
"hgnc_id": 13726,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3275G>A",
"hgvs_p": "p.Arg1092Gln"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}