← Back to variant description
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: 11-128839644-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128839644&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 128839644,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000392666.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg",
"transcript": "NM_153766.3",
"protein_id": "NP_722450.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 372,
"cds_start": 600,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": "ENST00000392666.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg",
"transcript": "ENST00000392666.6",
"protein_id": "ENSP00000376434.1",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 372,
"cds_start": 600,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": "NM_153766.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.657C>G",
"hgvs_p": "p.Ser219Arg",
"transcript": "ENST00000392664.2",
"protein_id": "ENSP00000376432.2",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 391,
"cds_start": 657,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg",
"transcript": "ENST00000324036.7",
"protein_id": "ENSP00000316233.3",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 372,
"cds_start": 600,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg",
"transcript": "ENST00000392665.6",
"protein_id": "ENSP00000376433.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 372,
"cds_start": 600,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg",
"transcript": "ENST00000440599.6",
"protein_id": "ENSP00000406320.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 372,
"cds_start": 600,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.657C>G",
"hgvs_p": "p.Ser219Arg",
"transcript": "NM_000220.6",
"protein_id": "NP_000211.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 391,
"cds_start": 657,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.651C>G",
"hgvs_p": "p.Ser217Arg",
"transcript": "NM_153765.3",
"protein_id": "NP_722449.3",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 389,
"cds_start": 651,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg",
"transcript": "NM_153764.3",
"protein_id": "NP_722448.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 372,
"cds_start": 600,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ1",
"gene_hgnc_id": 6255,
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg",
"transcript": "NM_153767.4",
"protein_id": "NP_722451.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 372,
"cds_start": 600,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNJ1",
"gene_hgnc_id": 6255,
"dbsnp": "rs104894245",
"frequency_reference_population": 0.00000342133,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342133,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9618459939956665,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.873,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.526,
"phylop100way_prediction": "Benign",
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM1,PM2,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PS1",
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000392666.6",
"gene_symbol": "KCNJ1",
"hgnc_id": 6255,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.600C>G",
"hgvs_p": "p.Ser200Arg"
}
],
"clinvar_disease": "Bartter disease type 2,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Bartter disease type 2|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}