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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: 17-42117515-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42117515&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KAT2A",
"hgnc_id": 4201,
"hgvs_c": "c.1510A>T",
"hgvs_p": "p.Ile504Phe",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001376227.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.8724,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8355202674865723,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 837,
"aa_ref": "I",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_021078.3",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1510A>T",
"hgvs_p": "p.Ile504Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000225916.10",
"protein_coding": true,
"protein_id": "NP_066564.2",
"strand": false,
"transcript": "NM_021078.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 837,
"aa_ref": "I",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000225916.10",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1510A>T",
"hgvs_p": "p.Ile504Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021078.3",
"protein_coding": true,
"protein_id": "ENSP00000225916.5",
"strand": false,
"transcript": "ENST00000225916.10",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 844,
"aa_ref": "I",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873177.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1510A>T",
"hgvs_p": "p.Ile504Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543236.1",
"strand": false,
"transcript": "ENST00000873177.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 841,
"aa_ref": "I",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873169.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1522A>T",
"hgvs_p": "p.Ile508Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543228.1",
"strand": false,
"transcript": "ENST00000873169.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 838,
"aa_ref": "I",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376227.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1510A>T",
"hgvs_p": "p.Ile504Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363156.1",
"strand": false,
"transcript": "NM_001376227.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 838,
"aa_ref": "I",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873170.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1510A>T",
"hgvs_p": "p.Ile504Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543229.1",
"strand": false,
"transcript": "ENST00000873170.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 835,
"aa_ref": "I",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963388.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1504A>T",
"hgvs_p": "p.Ile502Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633447.1",
"strand": false,
"transcript": "ENST00000963388.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 834,
"aa_ref": "I",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1510,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873176.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1510A>T",
"hgvs_p": "p.Ile504Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543235.1",
"strand": false,
"transcript": "ENST00000873176.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 832,
"aa_ref": "I",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963387.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1495A>T",
"hgvs_p": "p.Ile499Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633446.1",
"strand": false,
"transcript": "ENST00000963387.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 829,
"aa_ref": "I",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873173.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1486A>T",
"hgvs_p": "p.Ile496Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543232.1",
"strand": false,
"transcript": "ENST00000873173.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 826,
"aa_ref": "I",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873175.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1477A>T",
"hgvs_p": "p.Ile493Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543234.1",
"strand": false,
"transcript": "ENST00000873175.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 811,
"aa_ref": "I",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000915289.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1432A>T",
"hgvs_p": "p.Ile478Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585348.1",
"strand": false,
"transcript": "ENST00000915289.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 807,
"aa_ref": "I",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873172.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1420A>T",
"hgvs_p": "p.Ile474Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543231.1",
"strand": false,
"transcript": "ENST00000873172.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 800,
"aa_ref": "I",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2403,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873174.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1399A>T",
"hgvs_p": "p.Ile467Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543233.1",
"strand": false,
"transcript": "ENST00000873174.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 788,
"aa_ref": "I",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000873171.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1363A>T",
"hgvs_p": "p.Ile455Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543230.1",
"strand": false,
"transcript": "ENST00000873171.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 477,
"aa_ref": "I",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 625,
"cds_end": null,
"cds_length": 1434,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006721818.5",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.427A>T",
"hgvs_p": "p.Ile143Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721881.1",
"strand": false,
"transcript": "XM_006721818.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000465682.5",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "n.*624A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468390.1",
"strand": false,
"transcript": "ENST00000465682.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000465682.5",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "n.*624A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468390.1",
"strand": false,
"transcript": "ENST00000465682.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592310.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "n.-26A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000592310.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201214372",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013686238,
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136862,
"gnomad_exomes_homalt": 0,
"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": "Uncertain_significance",
"phylop100way_score": 4.255,
"pos": 42117515,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.249,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001376227.1"
}
]
}