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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: 17-44926116-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44926116&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44926116,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001265577.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2523A>G",
"hgvs_p": "p.Ala841Ala",
"transcript": "NM_001265577.2",
"protein_id": "NP_001252506.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 852,
"cds_start": 2523,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000593135.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265577.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2523A>G",
"hgvs_p": "p.Ala841Ala",
"transcript": "ENST00000593135.6",
"protein_id": "ENSP00000465992.1",
"transcript_support_level": 5,
"aa_start": 841,
"aa_end": null,
"aa_length": 852,
"cds_start": 2523,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001265577.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593135.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2559A>G",
"hgvs_p": "p.Ala853Ala",
"transcript": "ENST00000914031.1",
"protein_id": "ENSP00000584090.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 864,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914031.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2559A>G",
"hgvs_p": "p.Ala853Ala",
"transcript": "ENST00000914034.1",
"protein_id": "ENSP00000584093.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 864,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914034.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2532A>G",
"hgvs_p": "p.Ala844Ala",
"transcript": "ENST00000914032.1",
"protein_id": "ENSP00000584091.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 855,
"cds_start": 2532,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914032.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2448A>G",
"hgvs_p": "p.Ala816Ala",
"transcript": "ENST00000914033.1",
"protein_id": "ENSP00000584092.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 827,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914033.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2586A>G",
"hgvs_p": "p.Ala862Ala",
"transcript": "XM_011524385.3",
"protein_id": "XP_011522687.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 873,
"cds_start": 2586,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524385.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2559A>G",
"hgvs_p": "p.Ala853Ala",
"transcript": "XM_011524386.3",
"protein_id": "XP_011522688.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 864,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524386.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2559A>G",
"hgvs_p": "p.Ala853Ala",
"transcript": "XM_011524387.3",
"protein_id": "XP_011522689.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 864,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524387.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2550A>G",
"hgvs_p": "p.Ala850Ala",
"transcript": "XM_011524388.3",
"protein_id": "XP_011522690.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 861,
"cds_start": 2550,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524388.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.2481A>G",
"hgvs_p": "p.Ala827Ala",
"transcript": "XM_011524390.2",
"protein_id": "XP_011522692.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 838,
"cds_start": 2481,
"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": "XM_011524390.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.*284A>G",
"hgvs_p": null,
"transcript": "NM_001264573.2",
"protein_id": "NP_001251503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": null,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001264573.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.*284A>G",
"hgvs_p": null,
"transcript": "ENST00000587309.5",
"protein_id": "ENSP00000465377.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": null,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.*284A>G",
"hgvs_p": null,
"transcript": "XM_011524389.3",
"protein_id": "XP_011522691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524389.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.*284A>G",
"hgvs_p": null,
"transcript": "XM_047435469.1",
"protein_id": "XP_047291425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": null,
"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": "XM_047435469.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"hgvs_c": "c.*284A>G",
"hgvs_p": null,
"transcript": "ENST00000590129.1",
"protein_id": "ENSP00000465501.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": null,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590129.1"
}
],
"gene_symbol": "KIF18B",
"gene_hgnc_id": 27102,
"dbsnp": "rs3169733",
"frequency_reference_population": 0.29044485,
"hom_count_reference_population": 73422,
"allele_count_reference_population": 468577,
"gnomad_exomes_af": 0.284396,
"gnomad_genomes_af": 0.348696,
"gnomad_exomes_ac": 415654,
"gnomad_genomes_ac": 52923,
"gnomad_exomes_homalt": 62911,
"gnomad_genomes_homalt": 10511,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.127,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001265577.2",
"gene_symbol": "KIF18B",
"hgnc_id": 27102,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2523A>G",
"hgvs_p": "p.Ala841Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}