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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: 12-21875696-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21875696&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21875696,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261200.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "NM_020297.4",
"protein_id": "NP_064693.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 8668,
"mane_select": "ENST00000261200.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "ENST00000261200.9",
"protein_id": "ENSP00000261200.4",
"transcript_support_level": 5,
"aa_start": 684,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 8668,
"mane_select": "NM_020297.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "NM_001377273.1",
"protein_id": "NP_001364202.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 8728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "NM_005691.4",
"protein_id": "NP_005682.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 8844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "ENST00000261201.10",
"protein_id": "ENSP00000261201.4",
"transcript_support_level": 5,
"aa_start": 684,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 8844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "ENST00000684084.1",
"protein_id": "ENSP00000507859.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1532,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 6576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "ENST00000683676.1",
"protein_id": "ENSP00000508167.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1480,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Ser",
"transcript": "NM_001377274.1",
"protein_id": "NP_001364203.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1260,
"cds_start": 1186,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 8255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "ENST00000682068.1",
"protein_id": "ENSP00000507226.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2050,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Gly311Ser",
"transcript": "ENST00000544039.5",
"protein_id": "ENSP00000440521.1",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 1176,
"cds_start": 931,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "XM_005253288.5",
"protein_id": "XP_005253345.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 8552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "XM_011520545.4",
"protein_id": "XP_011518847.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1549,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 8724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "XM_005253289.5",
"protein_id": "XP_005253346.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1536,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4611,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 8629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser",
"transcript": "XM_005253290.5",
"protein_id": "XP_005253347.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 1502,
"cds_start": 2050,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 8527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "n.*1151G>A",
"hgvs_p": null,
"transcript": "ENST00000682879.1",
"protein_id": "ENSP00000508210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "n.2050G>A",
"hgvs_p": null,
"transcript": "ENST00000683105.1",
"protein_id": "ENSP00000506801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "n.2395G>A",
"hgvs_p": null,
"transcript": "ENST00000684543.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"hgvs_c": "n.*1151G>A",
"hgvs_p": null,
"transcript": "ENST00000682879.1",
"protein_id": "ENSP00000508210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257022",
"gene_hgnc_id": null,
"hgvs_c": "n.412+6034C>T",
"hgvs_p": null,
"transcript": "ENST00000539874.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABCC9",
"gene_hgnc_id": 60,
"dbsnp": "rs148174226",
"frequency_reference_population": 0.00072735257,
"hom_count_reference_population": 5,
"allele_count_reference_population": 1173,
"gnomad_exomes_af": 0.000754563,
"gnomad_genomes_af": 0.000466338,
"gnomad_exomes_ac": 1102,
"gnomad_genomes_ac": 71,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011582732200622559,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.0859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.464,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000261200.9",
"gene_symbol": "ABCC9",
"hgnc_id": 60,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Gly684Ser"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000539874.1",
"gene_symbol": "ENSG00000257022",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.412+6034C>T",
"hgvs_p": null
}
],
"clinvar_disease": "ABCC9-related disorder,Arrhythmogenic right ventricular cardiomyopathy,Cardiomyopathy,Cardiovascular phenotype,Dilated cardiomyopathy 1O,Hypertrichotic osteochondrodysplasia Cantu type,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:9 B:1",
"phenotype_combined": "not provided|not specified|Cardiovascular phenotype|Dilated cardiomyopathy 1O|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Hypertrichotic osteochondrodysplasia Cantu type|ABCC9-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}