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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: 17-19909228-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19909228&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19909228,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007202.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1936A>G",
"hgvs_p": "p.Ile646Val",
"transcript": "NM_007202.4",
"protein_id": "NP_009133.2",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 662,
"cds_start": 1936,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": "ENST00000225737.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007202.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1936A>G",
"hgvs_p": "p.Ile646Val",
"transcript": "ENST00000225737.11",
"protein_id": "ENSP00000225737.6",
"transcript_support_level": 1,
"aa_start": 646,
"aa_end": null,
"aa_length": 662,
"cds_start": 1936,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": "NM_007202.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225737.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "ENST00000395536.7",
"protein_id": "ENSP00000378907.3",
"transcript_support_level": 5,
"aa_start": 588,
"aa_end": null,
"aa_length": 604,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395536.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.2062A>G",
"hgvs_p": "p.Ile688Val",
"transcript": "ENST00000941090.1",
"protein_id": "ENSP00000611149.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 704,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2448,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941090.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1996A>G",
"hgvs_p": "p.Ile666Val",
"transcript": "ENST00000941092.1",
"protein_id": "ENSP00000611151.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 682,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941092.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1987A>G",
"hgvs_p": "p.Ile663Val",
"transcript": "ENST00000937770.1",
"protein_id": "ENSP00000607829.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 679,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937770.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1930A>G",
"hgvs_p": "p.Ile644Val",
"transcript": "ENST00000937767.1",
"protein_id": "ENSP00000607826.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 660,
"cds_start": 1930,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937767.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1873A>G",
"hgvs_p": "p.Ile625Val",
"transcript": "ENST00000937768.1",
"protein_id": "ENSP00000607827.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 641,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937768.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1837A>G",
"hgvs_p": "p.Ile613Val",
"transcript": "ENST00000937769.1",
"protein_id": "ENSP00000607828.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 629,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937769.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1774A>G",
"hgvs_p": "p.Ile592Val",
"transcript": "ENST00000937766.1",
"protein_id": "ENSP00000607825.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 608,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937766.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Ile588Val",
"transcript": "NM_001330152.2",
"protein_id": "NP_001317081.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 604,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330152.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1756A>G",
"hgvs_p": "p.Ile586Val",
"transcript": "ENST00000937771.1",
"protein_id": "ENSP00000607830.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 602,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937771.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1753A>G",
"hgvs_p": "p.Ile585Val",
"transcript": "ENST00000885389.1",
"protein_id": "ENSP00000555448.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 601,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885389.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1195A>G",
"hgvs_p": "p.Ile399Val",
"transcript": "ENST00000941091.1",
"protein_id": "ENSP00000611150.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 415,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941091.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1096A>G",
"hgvs_p": "p.Ile366Val",
"transcript": "ENST00000885388.1",
"protein_id": "ENSP00000555447.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 382,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885388.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "n.*269A>G",
"hgvs_p": null,
"transcript": "ENST00000578898.1",
"protein_id": "ENSP00000466329.1",
"transcript_support_level": 3,
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000578898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "n.*269A>G",
"hgvs_p": null,
"transcript": "ENST00000578898.1",
"protein_id": "ENSP00000466329.1",
"transcript_support_level": 3,
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000578898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.*11A>G",
"hgvs_p": null,
"transcript": "ENST00000583951.1",
"protein_id": "ENSP00000463398.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": null,
"cds_end": null,
"cds_length": 236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583951.1"
}
],
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"dbsnp": "rs203462",
"frequency_reference_population": 0.3894191,
"hom_count_reference_population": 125833,
"allele_count_reference_population": 627781,
"gnomad_exomes_af": 0.385428,
"gnomad_genomes_af": 0.427733,
"gnomad_exomes_ac": 562722,
"gnomad_genomes_ac": 65059,
"gnomad_exomes_homalt": 111071,
"gnomad_genomes_homalt": 14762,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000054074975196272135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.391,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_007202.4",
"gene_symbol": "AKAP10",
"hgnc_id": 368,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1936A>G",
"hgvs_p": "p.Ile646Val"
}
],
"clinvar_disease": "AKAP10-related disorder,Reclassified - variant of unknown significance",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Reclassified - variant of unknown significance|AKAP10-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}