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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: 16-3983435-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3983435&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3983435,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001116.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.2316A>G",
"hgvs_p": "p.Ile772Met",
"transcript": "NM_001116.4",
"protein_id": "NP_001107.2",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2316,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 7980,
"mane_select": "ENST00000294016.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001116.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.2316A>G",
"hgvs_p": "p.Ile772Met",
"transcript": "ENST00000294016.8",
"protein_id": "ENSP00000294016.3",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2316,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 7980,
"mane_select": "NM_001116.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294016.8"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.2406A>G",
"hgvs_p": "p.Ile802Met",
"transcript": "ENST00000936467.1",
"protein_id": "ENSP00000606526.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1383,
"cds_start": 2406,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936467.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.2316A>G",
"hgvs_p": "p.Ile772Met",
"transcript": "ENST00000868252.1",
"protein_id": "ENSP00000538311.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2316,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868252.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.2316A>G",
"hgvs_p": "p.Ile772Met",
"transcript": "ENST00000936466.1",
"protein_id": "ENSP00000606525.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2316,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 7937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936466.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.2223A>G",
"hgvs_p": "p.Ile741Met",
"transcript": "ENST00000944818.1",
"protein_id": "ENSP00000614877.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1322,
"cds_start": 2223,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944818.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.12A>G",
"hgvs_p": "p.Ile4Met",
"transcript": "ENST00000576936.5",
"protein_id": "ENSP00000460066.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 214,
"cds_start": 12,
"cds_end": null,
"cds_length": 645,
"cdna_start": 13,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576936.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.2373A>G",
"hgvs_p": "p.Ile791Met",
"transcript": "XM_005255079.4",
"protein_id": "XP_005255136.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1372,
"cds_start": 2373,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3169,
"cdna_end": null,
"cdna_length": 8037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255079.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "c.2373A>G",
"hgvs_p": "p.Ile791Met",
"transcript": "XM_011522353.3",
"protein_id": "XP_011520655.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2373,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 3169,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522353.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "n.716A>G",
"hgvs_p": null,
"transcript": "ENST00000574721.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000574721.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"hgvs_c": "n.526A>G",
"hgvs_p": null,
"transcript": "ENST00000575550.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000575550.5"
}
],
"gene_symbol": "ADCY9",
"gene_hgnc_id": 240,
"dbsnp": "rs2230739",
"frequency_reference_population": 0.29451314,
"hom_count_reference_population": 71122,
"allele_count_reference_population": 470804,
"gnomad_exomes_af": 0.298423,
"gnomad_genomes_af": 0.25731,
"gnomad_exomes_ac": 431682,
"gnomad_genomes_ac": 39122,
"gnomad_exomes_homalt": 65583,
"gnomad_genomes_homalt": 5539,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00022301077842712402,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.0579,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.602,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001116.4",
"gene_symbol": "ADCY9",
"hgnc_id": 240,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2316A>G",
"hgvs_p": "p.Ile772Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}