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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: 11-128839377-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128839377&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "KCNJ1",
"hgnc_id": 6255,
"hgvs_c": "c.924C>A",
"hgvs_p": "p.Cys308*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000220.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PP5_Very_Strong",
"acmg_score": 12,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "11",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Bartter disease type 2,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_153766.3",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392666.6",
"protein_coding": true,
"protein_id": "NP_722450.1",
"strand": false,
"transcript": "NM_153766.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000392666.6",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153766.3",
"protein_coding": true,
"protein_id": "ENSP00000376434.1",
"strand": false,
"transcript": "ENST00000392666.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 391,
"aa_ref": "C",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1176,
"cds_start": 924,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392664.2",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.924C>A",
"hgvs_p": "p.Cys308*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376432.2",
"strand": false,
"transcript": "ENST00000392664.2",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000324036.7",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000316233.3",
"strand": false,
"transcript": "ENST00000324036.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392665.6",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376433.2",
"strand": false,
"transcript": "ENST00000392665.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000440599.6",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406320.2",
"strand": false,
"transcript": "ENST00000440599.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 391,
"aa_ref": "C",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1176,
"cds_start": 924,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000220.6",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.924C>A",
"hgvs_p": "p.Cys308*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000211.1",
"strand": false,
"transcript": "NM_000220.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 389,
"aa_ref": "C",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1170,
"cds_start": 918,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_153765.3",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.918C>A",
"hgvs_p": "p.Cys306*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_722449.3",
"strand": false,
"transcript": "NM_153765.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_153764.3",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_722448.1",
"strand": false,
"transcript": "NM_153764.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2672,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_153767.4",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_722451.1",
"strand": false,
"transcript": "NM_153767.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857610.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527669.1",
"strand": false,
"transcript": "ENST00000857610.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857611.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527670.1",
"strand": false,
"transcript": "ENST00000857611.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857612.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527671.1",
"strand": false,
"transcript": "ENST00000857612.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857613.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527672.1",
"strand": false,
"transcript": "ENST00000857613.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857614.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527673.1",
"strand": false,
"transcript": "ENST00000857614.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5432,
"cdna_start": 4076,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857615.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527674.1",
"strand": false,
"transcript": "ENST00000857615.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5930,
"cdna_start": 4567,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923294.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593353.1",
"strand": false,
"transcript": "ENST00000923294.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000923295.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593354.1",
"strand": false,
"transcript": "ENST00000923295.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "C",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1119,
"cds_start": 867,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923296.1",
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"hgvs_c": "c.867C>A",
"hgvs_p": "p.Cys289*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593355.1",
"strand": false,
"transcript": "ENST00000923296.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs746509804",
"effect": "stop_gained",
"frequency_reference_population": 0.000027880315,
"gene_hgnc_id": 6255,
"gene_symbol": "KCNJ1",
"gnomad_exomes_ac": 44,
"gnomad_exomes_af": 0.0000300982,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657203,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "not provided|Bartter disease type 2",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.566,
"pos": 128839377,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000220.6"
}
]
}