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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: 17-19909218-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19909218&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19909218,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007202.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1946A>G",
"hgvs_p": "p.Gln649Arg",
"transcript": "NM_007202.4",
"protein_id": "NP_009133.2",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 662,
"cds_start": 1946,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225737.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007202.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1946A>G",
"hgvs_p": "p.Gln649Arg",
"transcript": "ENST00000225737.11",
"protein_id": "ENSP00000225737.6",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 662,
"cds_start": 1946,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007202.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225737.11"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1772A>G",
"hgvs_p": "p.Gln591Arg",
"transcript": "ENST00000395536.7",
"protein_id": "ENSP00000378907.3",
"transcript_support_level": 5,
"aa_start": 591,
"aa_end": null,
"aa_length": 604,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395536.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.2072A>G",
"hgvs_p": "p.Gln691Arg",
"transcript": "ENST00000941090.1",
"protein_id": "ENSP00000611149.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 704,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941090.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.2006A>G",
"hgvs_p": "p.Gln669Arg",
"transcript": "ENST00000941092.1",
"protein_id": "ENSP00000611151.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 682,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941092.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1997A>G",
"hgvs_p": "p.Gln666Arg",
"transcript": "ENST00000937770.1",
"protein_id": "ENSP00000607829.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 679,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937770.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1940A>G",
"hgvs_p": "p.Gln647Arg",
"transcript": "ENST00000937767.1",
"protein_id": "ENSP00000607826.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 660,
"cds_start": 1940,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937767.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1883A>G",
"hgvs_p": "p.Gln628Arg",
"transcript": "ENST00000937768.1",
"protein_id": "ENSP00000607827.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 641,
"cds_start": 1883,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937768.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1847A>G",
"hgvs_p": "p.Gln616Arg",
"transcript": "ENST00000937769.1",
"protein_id": "ENSP00000607828.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 629,
"cds_start": 1847,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937769.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1784A>G",
"hgvs_p": "p.Gln595Arg",
"transcript": "ENST00000937766.1",
"protein_id": "ENSP00000607825.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 608,
"cds_start": 1784,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937766.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1772A>G",
"hgvs_p": "p.Gln591Arg",
"transcript": "NM_001330152.2",
"protein_id": "NP_001317081.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 604,
"cds_start": 1772,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330152.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1766A>G",
"hgvs_p": "p.Gln589Arg",
"transcript": "ENST00000937771.1",
"protein_id": "ENSP00000607830.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 602,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937771.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1763A>G",
"hgvs_p": "p.Gln588Arg",
"transcript": "ENST00000885389.1",
"protein_id": "ENSP00000555448.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 601,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885389.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1205A>G",
"hgvs_p": "p.Gln402Arg",
"transcript": "ENST00000941091.1",
"protein_id": "ENSP00000611150.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 415,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941091.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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.1106A>G",
"hgvs_p": "p.Gln369Arg",
"transcript": "ENST00000885388.1",
"protein_id": "ENSP00000555447.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 382,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.*279A>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": null,
"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.*279A>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": null,
"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.*21A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583951.1"
}
],
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7461900115013123,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.203,
"revel_prediction": "Benign",
"alphamissense_score": 0.1788,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.965,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007202.4",
"gene_symbol": "AKAP10",
"hgnc_id": 368,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1946A>G",
"hgvs_p": "p.Gln649Arg"
}
],
"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
}