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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: 17-16422691-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16422691&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 16422691,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000338560.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "NM_016113.5",
"protein_id": "NP_057197.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 764,
"cds_start": 427,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000338560.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "ENST00000338560.12",
"protein_id": "ENSP00000342222.7",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 764,
"cds_start": 427,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_016113.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.298A>C",
"hgvs_p": "p.Arg100Arg",
"transcript": "ENST00000455666.1",
"protein_id": "ENSP00000390014.1",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 264,
"cds_start": 298,
"cds_end": null,
"cds_length": 795,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_005256676.3",
"protein_id": "XP_005256733.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 763,
"cds_start": 427,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_006721541.5",
"protein_id": "XP_006721604.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 733,
"cds_start": 427,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_011523922.3",
"protein_id": "XP_011522224.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 719,
"cds_start": 427,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_047436216.1",
"protein_id": "XP_047292172.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 718,
"cds_start": 427,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_006721543.5",
"protein_id": "XP_006721606.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 680,
"cds_start": 427,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_047436217.1",
"protein_id": "XP_047292173.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 680,
"cds_start": 427,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_017024730.3",
"protein_id": "XP_016880219.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 679,
"cds_start": 427,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_005256677.3",
"protein_id": "XP_005256734.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 630,
"cds_start": 427,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_017024731.3",
"protein_id": "XP_016880220.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 629,
"cds_start": 427,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_017024732.3",
"protein_id": "XP_016880221.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 585,
"cds_start": 427,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_005256678.6",
"protein_id": "XP_005256735.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 548,
"cds_start": 427,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_047436219.1",
"protein_id": "XP_047292175.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 547,
"cds_start": 427,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_011523923.3",
"protein_id": "XP_011522225.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 531,
"cds_start": 427,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg",
"transcript": "XM_047436220.1",
"protein_id": "XP_047292176.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 420,
"cds_start": 427,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPV2",
"gene_hgnc_id": 18082,
"dbsnp": "rs1129235",
"frequency_reference_population": 0.38820916,
"hom_count_reference_population": 125044,
"allele_count_reference_population": 625325,
"gnomad_exomes_af": 0.383596,
"gnomad_genomes_af": 0.432449,
"gnomad_exomes_ac": 559546,
"gnomad_genomes_ac": 65779,
"gnomad_exomes_homalt": 110165,
"gnomad_genomes_homalt": 14879,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07800000160932541,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.783,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000338560.12",
"gene_symbol": "TRPV2",
"hgnc_id": 18082,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.427A>C",
"hgvs_p": "p.Arg143Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}