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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: 11-128839231-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128839231&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 128839231,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392666.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"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.1013T>C",
"hgvs_p": "p.Met338Thr",
"transcript": "NM_153766.3",
"protein_id": "NP_722450.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 372,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": "ENST00000392666.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1013T>C",
"hgvs_p": "p.Met338Thr",
"transcript": "ENST00000392666.6",
"protein_id": "ENSP00000376434.1",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 372,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": "NM_153766.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1070T>C",
"hgvs_p": "p.Met357Thr",
"transcript": "ENST00000392664.2",
"protein_id": "ENSP00000376432.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 391,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1013T>C",
"hgvs_p": "p.Met338Thr",
"transcript": "ENST00000324036.7",
"protein_id": "ENSP00000316233.3",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 372,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1013T>C",
"hgvs_p": "p.Met338Thr",
"transcript": "ENST00000392665.6",
"protein_id": "ENSP00000376433.2",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 372,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1013T>C",
"hgvs_p": "p.Met338Thr",
"transcript": "ENST00000440599.6",
"protein_id": "ENSP00000406320.2",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 372,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1070T>C",
"hgvs_p": "p.Met357Thr",
"transcript": "NM_000220.6",
"protein_id": "NP_000211.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 391,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1064T>C",
"hgvs_p": "p.Met355Thr",
"transcript": "NM_153765.3",
"protein_id": "NP_722449.3",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 389,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1013T>C",
"hgvs_p": "p.Met338Thr",
"transcript": "NM_153764.3",
"protein_id": "NP_722448.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 372,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"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.1013T>C",
"hgvs_p": "p.Met338Thr",
"transcript": "NM_153767.4",
"protein_id": "NP_722451.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 372,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNJ1",
"gene_hgnc_id": 6255,
"dbsnp": "rs59172778",
"frequency_reference_population": 0.00970131,
"hom_count_reference_population": 88,
"allele_count_reference_population": 15659,
"gnomad_exomes_af": 0.00991362,
"gnomad_genomes_af": 0.00766331,
"gnomad_exomes_ac": 14492,
"gnomad_genomes_ac": 1167,
"gnomad_exomes_homalt": 80,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016446411609649658,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1101,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.849,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 20,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000392666.6",
"gene_symbol": "KCNJ1",
"hgnc_id": 6255,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1013T>C",
"hgvs_p": "p.Met338Thr"
}
],
"clinvar_disease": "Bartter disease type 2,KCNJ1-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"phenotype_combined": "Bartter disease type 2|not specified|not provided|KCNJ1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}