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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: 17-19931816-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19931816&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19931816,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007202.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1630T>G",
"hgvs_p": "p.Ser544Ala",
"transcript": "NM_007202.4",
"protein_id": "NP_009133.2",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 662,
"cds_start": 1630,
"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": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1630T>G",
"hgvs_p": "p.Ser544Ala",
"transcript": "ENST00000225737.11",
"protein_id": "ENSP00000225737.6",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 662,
"cds_start": 1630,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1467+4470T>G",
"hgvs_p": null,
"transcript": "ENST00000395536.7",
"protein_id": "ENSP00000378907.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1630T>G",
"hgvs_p": "p.Ser544Ala",
"transcript": "ENST00000941090.1",
"protein_id": "ENSP00000611149.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 704,
"cds_start": 1630,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1690T>G",
"hgvs_p": "p.Ser564Ala",
"transcript": "ENST00000941092.1",
"protein_id": "ENSP00000611151.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 682,
"cds_start": 1690,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1681T>G",
"hgvs_p": "p.Ser561Ala",
"transcript": "ENST00000937770.1",
"protein_id": "ENSP00000607829.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 679,
"cds_start": 1681,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1624T>G",
"hgvs_p": "p.Ser542Ala",
"transcript": "ENST00000937767.1",
"protein_id": "ENSP00000607826.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 660,
"cds_start": 1624,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1567T>G",
"hgvs_p": "p.Ser523Ala",
"transcript": "ENST00000937768.1",
"protein_id": "ENSP00000607827.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 641,
"cds_start": 1567,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1531T>G",
"hgvs_p": "p.Ser511Ala",
"transcript": "ENST00000937769.1",
"protein_id": "ENSP00000607828.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 629,
"cds_start": 1531,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1468T>G",
"hgvs_p": "p.Ser490Ala",
"transcript": "ENST00000937766.1",
"protein_id": "ENSP00000607825.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 608,
"cds_start": 1468,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1447T>G",
"hgvs_p": "p.Ser483Ala",
"transcript": "ENST00000885389.1",
"protein_id": "ENSP00000555448.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 601,
"cds_start": 1447,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.889T>G",
"hgvs_p": "p.Ser297Ala",
"transcript": "ENST00000941091.1",
"protein_id": "ENSP00000611150.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 415,
"cds_start": 889,
"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": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.790T>G",
"hgvs_p": "p.Ser264Ala",
"transcript": "ENST00000885388.1",
"protein_id": "ENSP00000555447.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 382,
"cds_start": 790,
"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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.51T>G",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000583951.1",
"protein_id": "ENSP00000463398.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 77,
"cds_start": 51,
"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"
},
{
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1467+4470T>G",
"hgvs_p": null,
"transcript": "NM_001330152.2",
"protein_id": "NP_001317081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "c.1461+4470T>G",
"hgvs_p": null,
"transcript": "ENST00000937771.1",
"protein_id": "ENSP00000607830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": null,
"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": 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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "n.61T>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"hgvs_c": "n.1779T>G",
"hgvs_p": null,
"transcript": "XR_007065258.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007065258.1"
}
],
"gene_symbol": "AKAP10",
"gene_hgnc_id": 368,
"dbsnp": "rs776518470",
"frequency_reference_population": 0.0000037194034,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273784,
"gnomad_genomes_af": 0.0000131442,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06269904971122742,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.1,
"revel_prediction": "Benign",
"alphamissense_score": 0.0553,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.024,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_007202.4",
"gene_symbol": "AKAP10",
"hgnc_id": 368,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1630T>G",
"hgvs_p": "p.Ser544Ala"
}
],
"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
}