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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: 11-65593533-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65593533&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65593533,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033347.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_033347.2",
"protein_id": "NP_203133.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 307,
"cds_start": 661,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340313.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033347.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "ENST00000340313.5",
"protein_id": "ENSP00000344820.5",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 307,
"cds_start": 661,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033347.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340313.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "ENST00000394216.6",
"protein_id": "ENSP00000377764.2",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 257,
"cds_start": 661,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394216.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "ENST00000342202.8",
"protein_id": "ENSP00000343923.4",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 252,
"cds_start": 661,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342202.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "ENST00000394217.6",
"protein_id": "ENSP00000377765.2",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 252,
"cds_start": 661,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394217.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_005714.2",
"protein_id": "NP_005705.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 257,
"cds_start": 661,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005714.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_033348.2",
"protein_id": "NP_203134.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 252,
"cds_start": 661,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033348.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser",
"transcript": "NM_033455.2",
"protein_id": "NP_258416.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 252,
"cds_start": 661,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033455.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.-33G>A",
"hgvs_p": null,
"transcript": "ENST00000530380.1",
"protein_id": "ENSP00000431950.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "ENST00000525254.1",
"protein_id": "ENSP00000435449.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 27,
"cds_start": null,
"cds_end": null,
"cds_length": 84,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525254.1"
}
],
"gene_symbol": "KCNK7",
"gene_hgnc_id": 6282,
"dbsnp": "rs749274421",
"frequency_reference_population": 0.00001551011,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000164417,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09786149859428406,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.0835,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.753,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_033347.2",
"gene_symbol": "KCNK7",
"hgnc_id": 6282,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Gly221Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}