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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: 12-48775015-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48775015&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48775015,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357869.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "NM_015270.5",
"protein_id": "NP_056085.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": "ENST00000357869.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "ENST00000357869.8",
"protein_id": "ENSP00000350536.4",
"transcript_support_level": 2,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": "NM_015270.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "ENST00000307885.4",
"protein_id": "ENSP00000311405.4",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "NM_001390831.2",
"protein_id": "NP_001377760.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 6708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "NM_001412819.1",
"protein_id": "NP_001399748.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 6021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "NM_001412820.1",
"protein_id": "NP_001399749.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "NM_001412821.1",
"protein_id": "NP_001399750.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "NM_001412822.1",
"protein_id": "NP_001399751.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "NM_001390830.1",
"protein_id": "NP_001377759.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "ENST00000550422.5",
"protein_id": "ENSP00000446730.1",
"transcript_support_level": 2,
"aa_start": 674,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "XM_006719210.5",
"protein_id": "XP_006719273.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3172,
"cdna_end": null,
"cdna_length": 7056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser",
"transcript": "XM_047428173.1",
"protein_id": "XP_047284129.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2020,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 6322,
"cdna_end": null,
"cdna_length": 10206,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "n.542G>T",
"hgvs_p": null,
"transcript": "ENST00000552090.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 861,
"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": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "n.2824G>T",
"hgvs_p": null,
"transcript": "NR_182049.1",
"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": 6703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.1980+288G>T",
"hgvs_p": null,
"transcript": "XM_017018743.2",
"protein_id": "XP_016874232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": -4,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"dbsnp": "rs3730071",
"frequency_reference_population": 0.024514895,
"hom_count_reference_population": 546,
"allele_count_reference_population": 38197,
"gnomad_exomes_af": 0.0253168,
"gnomad_genomes_af": 0.0171061,
"gnomad_exomes_ac": 35594,
"gnomad_genomes_ac": 2603,
"gnomad_exomes_homalt": 521,
"gnomad_genomes_homalt": 25,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009392976760864258,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.698,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "ENST00000357869.8",
"gene_symbol": "ADCY6",
"hgnc_id": 237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2020G>T",
"hgvs_p": "p.Ala674Ser"
}
],
"clinvar_disease": "ADCY6-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ADCY6-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}