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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: 17-78164260-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78164260&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78164260,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000340363.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Pro179Arg",
"transcript": "NM_001163075.2",
"protein_id": "NP_001156547.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 265,
"cds_start": 536,
"cds_end": null,
"cds_length": 798,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": "ENST00000340363.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Pro179Arg",
"transcript": "ENST00000340363.10",
"protein_id": "ENSP00000343493.4",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 265,
"cds_start": 536,
"cds_end": null,
"cds_length": 798,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1072,
"mane_select": "NM_001163075.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Pro175Arg",
"transcript": "ENST00000591995.1",
"protein_id": "ENSP00000466133.1",
"transcript_support_level": 4,
"aa_start": 175,
"aa_end": null,
"aa_length": 188,
"cds_start": 524,
"cds_end": null,
"cds_length": 568,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.665C>G",
"hgvs_p": "p.Pro222Arg",
"transcript": "XM_017023997.2",
"protein_id": "XP_016879486.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 356,
"cds_start": 665,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Pro179Arg",
"transcript": "XM_017023998.2",
"protein_id": "XP_016879487.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 313,
"cds_start": 536,
"cds_end": null,
"cds_length": 942,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.665C>G",
"hgvs_p": "p.Pro222Arg",
"transcript": "XM_011524152.3",
"protein_id": "XP_011522454.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 308,
"cds_start": 665,
"cds_end": null,
"cds_length": 927,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.665C>G",
"hgvs_p": "p.Pro222Arg",
"transcript": "XM_047435058.1",
"protein_id": "XP_047291014.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 290,
"cds_start": 665,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Pro179Arg",
"transcript": "XM_047435060.1",
"protein_id": "XP_047291016.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 247,
"cds_start": 536,
"cds_end": null,
"cds_length": 744,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.236C>G",
"hgvs_p": "p.Pro79Arg",
"transcript": "XM_017023999.2",
"protein_id": "XP_016879488.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 165,
"cds_start": 236,
"cds_end": null,
"cds_length": 498,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Pro63Arg",
"transcript": "XM_017024000.2",
"protein_id": "XP_016879489.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 149,
"cds_start": 188,
"cds_end": null,
"cds_length": 450,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Pro63Arg",
"transcript": "XM_017024001.2",
"protein_id": "XP_016879490.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 149,
"cds_start": 188,
"cds_end": null,
"cds_length": 450,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.173C>G",
"hgvs_p": "p.Pro58Arg",
"transcript": "XM_047435062.1",
"protein_id": "XP_047291018.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 144,
"cds_start": 173,
"cds_end": null,
"cds_length": 435,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.342C>G",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000586029.1",
"protein_id": "ENSP00000487393.1",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 150,
"cds_start": 342,
"cds_end": null,
"cds_length": 453,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.471C>G",
"hgvs_p": "p.Ala157Ala",
"transcript": "XM_047435059.1",
"protein_id": "XP_047291015.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 252,
"cds_start": 471,
"cds_end": null,
"cds_length": 759,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "c.627C>G",
"hgvs_p": "p.Ala209Ala",
"transcript": "XM_047435061.1",
"protein_id": "XP_047291017.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 245,
"cds_start": 627,
"cds_end": null,
"cds_length": 738,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1533,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"hgvs_c": "n.509C>G",
"hgvs_p": null,
"transcript": "ENST00000451352.3",
"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": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C17orf99",
"gene_hgnc_id": 34490,
"dbsnp": "rs1181259577",
"frequency_reference_population": 0.000019335952,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000150093,
"gnomad_genomes_af": 0.0000590629,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.034231334924697876,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.1611,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.381,
"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": "ENST00000340363.10",
"gene_symbol": "C17orf99",
"hgnc_id": 34490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Pro179Arg"
}
],
"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
}