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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: 10-92637538-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92637538&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 92637538,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004523.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "c.2153A>T",
"hgvs_p": "p.His718Leu",
"transcript": "NM_004523.4",
"protein_id": "NP_004514.2",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260731.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004523.4"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "c.2153A>T",
"hgvs_p": "p.His718Leu",
"transcript": "ENST00000260731.5",
"protein_id": "ENSP00000260731.3",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004523.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260731.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "c.2153A>T",
"hgvs_p": "p.His718Leu",
"transcript": "ENST00000937278.1",
"protein_id": "ENSP00000607337.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2153,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937278.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "c.1946A>T",
"hgvs_p": "p.His649Leu",
"transcript": "ENST00000676647.1",
"protein_id": "ENSP00000503394.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 987,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676647.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "c.1946A>T",
"hgvs_p": "p.His649Leu",
"transcript": "ENST00000676757.1",
"protein_id": "ENSP00000504289.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 987,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676757.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "c.1772A>T",
"hgvs_p": "p.His591Leu",
"transcript": "ENST00000937277.1",
"protein_id": "ENSP00000607336.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 929,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "n.*671A>T",
"hgvs_p": null,
"transcript": "ENST00000676621.1",
"protein_id": "ENSP00000503639.1",
"transcript_support_level": null,
"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": "ENST00000676621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "n.*127A>T",
"hgvs_p": null,
"transcript": "ENST00000677720.1",
"protein_id": "ENSP00000504840.1",
"transcript_support_level": null,
"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": "ENST00000677720.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "n.*671A>T",
"hgvs_p": null,
"transcript": "ENST00000676621.1",
"protein_id": "ENSP00000503639.1",
"transcript_support_level": null,
"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": "ENST00000676621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"hgvs_c": "n.*127A>T",
"hgvs_p": null,
"transcript": "ENST00000677720.1",
"protein_id": "ENSP00000504840.1",
"transcript_support_level": null,
"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": "ENST00000677720.1"
}
],
"gene_symbol": "KIF11",
"gene_hgnc_id": 6388,
"dbsnp": "rs116942055",
"frequency_reference_population": 0.00082391273,
"hom_count_reference_population": 27,
"allele_count_reference_population": 1318,
"gnomad_exomes_af": 0.000780743,
"gnomad_genomes_af": 0.00123405,
"gnomad_exomes_ac": 1130,
"gnomad_genomes_ac": 188,
"gnomad_exomes_homalt": 22,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004766315221786499,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.1331,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.406,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004523.4",
"gene_symbol": "KIF11",
"hgnc_id": 6388,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2153A>T",
"hgvs_p": "p.His718Leu"
}
],
"clinvar_disease": " lymphedema, or intellectual disability,Microcephaly with or without chorioretinopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}