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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: 3-156531467-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=156531467&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 156531467,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_172160.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.1140A>C",
"hgvs_p": "p.Glu380Asp",
"transcript": "NM_172160.3",
"protein_id": "NP_751892.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 419,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000490337.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172160.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.1140A>C",
"hgvs_p": "p.Glu380Asp",
"transcript": "ENST00000490337.6",
"protein_id": "ENSP00000419952.1",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 419,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172160.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490337.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.1107A>C",
"hgvs_p": "p.Glu369Asp",
"transcript": "ENST00000471742.5",
"protein_id": "ENSP00000418956.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 408,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471742.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.1086A>C",
"hgvs_p": "p.Glu362Asp",
"transcript": "ENST00000302490.12",
"protein_id": "ENSP00000305858.8",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 401,
"cds_start": 1086,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302490.12"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.999A>C",
"hgvs_p": "p.Glu333Asp",
"transcript": "ENST00000389634.5",
"protein_id": "ENSP00000374285.5",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 372,
"cds_start": 999,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389634.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.1107A>C",
"hgvs_p": "p.Glu369Asp",
"transcript": "NM_003471.3",
"protein_id": "NP_003462.2",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 408,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003471.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.1086A>C",
"hgvs_p": "p.Glu362Asp",
"transcript": "NM_172159.3",
"protein_id": "NP_751891.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 401,
"cds_start": 1086,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172159.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.1053A>C",
"hgvs_p": "p.Glu351Asp",
"transcript": "NM_001308217.1",
"protein_id": "NP_001295146.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 390,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308217.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.1053A>C",
"hgvs_p": "p.Glu351Asp",
"transcript": "ENST00000389636.9",
"protein_id": "ENSP00000374287.5",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 390,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389636.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.999A>C",
"hgvs_p": "p.Glu333Asp",
"transcript": "NM_001308222.1",
"protein_id": "NP_001295151.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 372,
"cds_start": 999,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308222.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.894A>C",
"hgvs_p": "p.Glu298Asp",
"transcript": "XM_011513115.4",
"protein_id": "XP_011511417.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 337,
"cds_start": 894,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513115.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.894A>C",
"hgvs_p": "p.Glu298Asp",
"transcript": "XM_017007171.3",
"protein_id": "XP_016862660.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 337,
"cds_start": 894,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007171.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.885A>C",
"hgvs_p": "p.Glu295Asp",
"transcript": "XM_011513116.4",
"protein_id": "XP_011511418.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 334,
"cds_start": 885,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513116.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.768A>C",
"hgvs_p": "p.Glu256Asp",
"transcript": "XM_011513117.4",
"protein_id": "XP_011511419.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 295,
"cds_start": 768,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513117.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "c.768A>C",
"hgvs_p": "p.Glu256Asp",
"transcript": "XM_017007173.3",
"protein_id": "XP_016862662.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 295,
"cds_start": 768,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007173.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"hgvs_c": "n.932A>C",
"hgvs_p": null,
"transcript": "ENST00000497291.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000497291.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287916",
"gene_hgnc_id": null,
"hgvs_c": "n.39-7997A>C",
"hgvs_p": null,
"transcript": "ENST00000661961.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000661961.1"
}
],
"gene_symbol": "KCNAB1",
"gene_hgnc_id": 6228,
"dbsnp": "rs931177735",
"frequency_reference_population": 6.841087e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84109e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12819495797157288,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.1269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.125,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_172160.3",
"gene_symbol": "KCNAB1",
"hgnc_id": 6228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1140A>C",
"hgvs_p": "p.Glu380Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000661961.1",
"gene_symbol": "ENSG00000287916",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.39-7997A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}