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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: 17-42117499-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42117499&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KAT2A",
"hgnc_id": 4201,
"hgvs_c": "c.1526C>T",
"hgvs_p": "p.Thr509Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001376227.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 58,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0849,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2551225423812866,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 837,
"aa_ref": "T",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1526,
"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.1526C>T",
"hgvs_p": "p.Thr509Met",
"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": "M",
"aa_end": null,
"aa_length": 837,
"aa_ref": "T",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1526,
"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.1526C>T",
"hgvs_p": "p.Thr509Met",
"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": "M",
"aa_end": null,
"aa_length": 844,
"aa_ref": "T",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1526,
"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.1526C>T",
"hgvs_p": "p.Thr509Met",
"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": "M",
"aa_end": null,
"aa_length": 841,
"aa_ref": "T",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1538,
"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.1538C>T",
"hgvs_p": "p.Thr513Met",
"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": "M",
"aa_end": null,
"aa_length": 838,
"aa_ref": "T",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1526,
"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.1526C>T",
"hgvs_p": "p.Thr509Met",
"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": "M",
"aa_end": null,
"aa_length": 838,
"aa_ref": "T",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1526,
"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.1526C>T",
"hgvs_p": "p.Thr509Met",
"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": "M",
"aa_end": null,
"aa_length": 835,
"aa_ref": "T",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1520,
"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.1520C>T",
"hgvs_p": "p.Thr507Met",
"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": "M",
"aa_end": null,
"aa_length": 834,
"aa_ref": "T",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1526,
"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.1526C>T",
"hgvs_p": "p.Thr509Met",
"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": "M",
"aa_end": null,
"aa_length": 832,
"aa_ref": "T",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1511,
"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.1511C>T",
"hgvs_p": "p.Thr504Met",
"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": "M",
"aa_end": null,
"aa_length": 829,
"aa_ref": "T",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1502,
"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.1502C>T",
"hgvs_p": "p.Thr501Met",
"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": "M",
"aa_end": null,
"aa_length": 826,
"aa_ref": "T",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1493,
"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.1493C>T",
"hgvs_p": "p.Thr498Met",
"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": "M",
"aa_end": null,
"aa_length": 811,
"aa_ref": "T",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1448,
"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.1448C>T",
"hgvs_p": "p.Thr483Met",
"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": "M",
"aa_end": null,
"aa_length": 807,
"aa_ref": "T",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1436,
"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.1436C>T",
"hgvs_p": "p.Thr479Met",
"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": "M",
"aa_end": null,
"aa_length": 800,
"aa_ref": "T",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 2403,
"cds_start": 1415,
"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.1415C>T",
"hgvs_p": "p.Thr472Met",
"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": "M",
"aa_end": null,
"aa_length": 788,
"aa_ref": "T",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1379,
"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.1379C>T",
"hgvs_p": "p.Thr460Met",
"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": "M",
"aa_end": null,
"aa_length": 477,
"aa_ref": "T",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1434,
"cds_start": 443,
"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.443C>T",
"hgvs_p": "p.Thr148Met",
"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.*640C>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.*640C>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.-10C>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": "rs200608565",
"effect": "missense_variant",
"frequency_reference_population": 0.00003594425,
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"gnomad_exomes_ac": 49,
"gnomad_exomes_af": 0.0000335302,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 9,
"gnomad_genomes_af": 0.0000591172,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.857,
"pos": 42117499,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.202,
"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"
}
]
}