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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: 13-109009011-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=109009011&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 109009011,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000457511.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.2557C>G",
"hgvs_p": "p.Pro853Ala",
"transcript": "NM_001198950.3",
"protein_id": "NP_001185879.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1880,
"cds_start": 2557,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 2791,
"cdna_end": null,
"cdna_length": 7046,
"mane_select": "ENST00000457511.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.2557C>G",
"hgvs_p": "p.Pro853Ala",
"transcript": "ENST00000457511.7",
"protein_id": "ENSP00000401633.3",
"transcript_support_level": 1,
"aa_start": 853,
"aa_end": null,
"aa_length": 1880,
"cds_start": 2557,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 2791,
"cdna_end": null,
"cdna_length": 7046,
"mane_select": "NM_001198950.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.2491C>G",
"hgvs_p": "p.Pro831Ala",
"transcript": "ENST00000356711.7",
"protein_id": "ENSP00000349145.2",
"transcript_support_level": 1,
"aa_start": 831,
"aa_end": null,
"aa_length": 1858,
"cds_start": 2491,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 2617,
"cdna_end": null,
"cdna_length": 6864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.2491C>G",
"hgvs_p": "p.Pro831Ala",
"transcript": "NM_015011.3",
"protein_id": "NP_055826.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1858,
"cds_start": 2491,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 2864,
"cdna_end": null,
"cdna_length": 7119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.2491C>G",
"hgvs_p": "p.Pro831Ala",
"transcript": "ENST00000251041.10",
"protein_id": "ENSP00000251041.5",
"transcript_support_level": 5,
"aa_start": 831,
"aa_end": null,
"aa_length": 940,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.2554C>G",
"hgvs_p": "p.Pro852Ala",
"transcript": "XM_047430182.1",
"protein_id": "XP_047286138.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1879,
"cds_start": 2554,
"cds_end": null,
"cds_length": 5640,
"cdna_start": 2788,
"cdna_end": null,
"cdna_length": 7043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.2491C>G",
"hgvs_p": "p.Pro831Ala",
"transcript": "XM_011521062.2",
"protein_id": "XP_011519364.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1858,
"cds_start": 2491,
"cds_end": null,
"cds_length": 5577,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 6993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.2488C>G",
"hgvs_p": "p.Pro830Ala",
"transcript": "XM_047430183.1",
"protein_id": "XP_047286139.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1857,
"cds_start": 2488,
"cds_end": null,
"cds_length": 5574,
"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 6990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Pro343Ala",
"transcript": "XM_047430184.1",
"protein_id": "XP_047286140.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1370,
"cds_start": 1027,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 5660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Pro216Ala",
"transcript": "XM_047430185.1",
"protein_id": "XP_047286141.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 1243,
"cds_start": 646,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"hgvs_c": "n.1877C>G",
"hgvs_p": null,
"transcript": "ENST00000375857.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO16",
"gene_hgnc_id": 29822,
"dbsnp": "rs3825491",
"frequency_reference_population": 0.39273515,
"hom_count_reference_population": 126969,
"allele_count_reference_population": 627773,
"gnomad_exomes_af": 0.393333,
"gnomad_genomes_af": 0.387049,
"gnomad_exomes_ac": 568933,
"gnomad_genomes_ac": 58840,
"gnomad_exomes_homalt": 115233,
"gnomad_genomes_homalt": 11736,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00009509406663710251,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.441,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.925,
"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": -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": "ENST00000457511.7",
"gene_symbol": "MYO16",
"hgnc_id": 29822,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2557C>G",
"hgvs_p": "p.Pro853Ala"
}
],
"clinvar_disease": "MYO16-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "MYO16-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}