← 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: 17-42117538-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42117538&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42117538,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001376227.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "NM_021078.3",
"protein_id": "NP_066564.2",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 837,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225916.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021078.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "ENST00000225916.10",
"protein_id": "ENSP00000225916.5",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 837,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021078.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225916.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "ENST00000873177.1",
"protein_id": "ENSP00000543236.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 844,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873177.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500His",
"transcript": "ENST00000873169.1",
"protein_id": "ENSP00000543228.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 841,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873169.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "NM_001376227.1",
"protein_id": "NP_001363156.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 838,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376227.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "ENST00000873170.1",
"protein_id": "ENSP00000543229.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 838,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873170.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Arg494His",
"transcript": "ENST00000963388.1",
"protein_id": "ENSP00000633447.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 835,
"cds_start": 1481,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963388.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "ENST00000873176.1",
"protein_id": "ENSP00000543235.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 834,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873176.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Arg491His",
"transcript": "ENST00000963387.1",
"protein_id": "ENSP00000633446.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 832,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963387.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1463G>A",
"hgvs_p": "p.Arg488His",
"transcript": "ENST00000873173.1",
"protein_id": "ENSP00000543232.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 829,
"cds_start": 1463,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873173.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"transcript": "ENST00000873175.1",
"protein_id": "ENSP00000543234.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 826,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873175.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1409G>A",
"hgvs_p": "p.Arg470His",
"transcript": "ENST00000915289.1",
"protein_id": "ENSP00000585348.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 811,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915289.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "ENST00000873172.1",
"protein_id": "ENSP00000543231.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 807,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873172.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1376G>A",
"hgvs_p": "p.Arg459His",
"transcript": "ENST00000873174.1",
"protein_id": "ENSP00000543233.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 800,
"cds_start": 1376,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873174.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Arg447His",
"transcript": "ENST00000873171.1",
"protein_id": "ENSP00000543230.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 788,
"cds_start": 1340,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873171.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Arg135His",
"transcript": "XM_006721818.5",
"protein_id": "XP_006721881.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 477,
"cds_start": 404,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721818.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "n.*601G>A",
"hgvs_p": null,
"transcript": "ENST00000465682.5",
"protein_id": "ENSP00000468390.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465682.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "n.*601G>A",
"hgvs_p": null,
"transcript": "ENST00000465682.5",
"protein_id": "ENSP00000468390.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465682.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"hgvs_c": "n.-49G>A",
"hgvs_p": null,
"transcript": "ENST00000592310.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592310.1"
}
],
"gene_symbol": "KAT2A",
"gene_hgnc_id": 4201,
"dbsnp": "rs142273465",
"frequency_reference_population": 0.0000020531998,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020532,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8376141786575317,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.29,
"revel_prediction": "Benign",
"alphamissense_score": 0.3846,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.861,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376227.1",
"gene_symbol": "KAT2A",
"hgnc_id": 4201,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His"
}
],
"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
}