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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: 6-17794263-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=17794263&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 17794263,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000259711.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu",
"transcript": "NM_022113.6",
"protein_id": "NP_071396.4",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3208,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": "ENST00000259711.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu",
"transcript": "ENST00000259711.11",
"protein_id": "ENSP00000259711.6",
"transcript_support_level": 1,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3208,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": "NM_022113.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu",
"transcript": "ENST00000378826.6",
"protein_id": "ENSP00000368103.2",
"transcript_support_level": 1,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1770,
"cds_start": 3208,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu",
"transcript": "ENST00000378843.6",
"protein_id": "ENSP00000368120.2",
"transcript_support_level": 1,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1757,
"cds_start": 3208,
"cds_end": null,
"cds_length": 5274,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu",
"transcript": "ENST00000378814.9",
"protein_id": "ENSP00000368091.5",
"transcript_support_level": 1,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1749,
"cds_start": 3208,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 3208,
"cdna_end": null,
"cdna_length": 6924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Leu463Leu",
"transcript": "ENST00000358380.10",
"protein_id": "ENSP00000351150.6",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 888,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3328C>T",
"hgvs_p": "p.Leu1110Leu",
"transcript": "ENST00000636847.1",
"protein_id": "ENSP00000490031.1",
"transcript_support_level": 5,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1845,
"cds_start": 3328,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu",
"transcript": "NM_001105566.3",
"protein_id": "NP_001099036.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1770,
"cds_start": 3208,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 5902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu",
"transcript": "NM_001105567.3",
"protein_id": "NP_001099037.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1757,
"cds_start": 3208,
"cds_end": null,
"cds_length": 5274,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu",
"transcript": "NM_001105568.4",
"protein_id": "NP_001099038.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1749,
"cds_start": 3208,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 7153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Leu87Leu",
"transcript": "ENST00000502297.5",
"protein_id": "ENSP00000425616.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 801,
"cds_start": 259,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 4009,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "n.439C>T",
"hgvs_p": null,
"transcript": "ENST00000514714.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"hgvs_c": "c.255+309C>T",
"hgvs_p": null,
"transcript": "ENST00000506044.1",
"protein_id": "ENSP00000422808.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF13A",
"gene_hgnc_id": 14566,
"dbsnp": "rs3734234",
"frequency_reference_population": 0.42834178,
"hom_count_reference_population": 152054,
"allele_count_reference_population": 689626,
"gnomad_exomes_af": 0.435007,
"gnomad_genomes_af": 0.36435,
"gnomad_exomes_ac": 634290,
"gnomad_genomes_ac": 55336,
"gnomad_exomes_homalt": 140802,
"gnomad_genomes_homalt": 11252,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"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": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.079,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000259711.11",
"gene_symbol": "KIF13A",
"hgnc_id": 14566,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Leu1070Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}