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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: 11-101476362-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=101476362&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 101476362,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000344327.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1683T>C",
"hgvs_p": "p.Asn561Asn",
"transcript": "NM_004621.6",
"protein_id": "NP_004612.2",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 931,
"cds_start": 1683,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": "ENST00000344327.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1683T>C",
"hgvs_p": "p.Asn561Asn",
"transcript": "ENST00000344327.8",
"protein_id": "ENSP00000340913.3",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 931,
"cds_start": 1683,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": "NM_004621.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Asn506Asn",
"transcript": "ENST00000360497.4",
"protein_id": "ENSP00000353687.4",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 876,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1335T>C",
"hgvs_p": "p.Asn445Asn",
"transcript": "ENST00000348423.8",
"protein_id": "ENSP00000343672.4",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 815,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1335T>C",
"hgvs_p": "p.Asn445Asn",
"transcript": "NM_001439335.1",
"protein_id": "NP_001426264.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 815,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Asn506Asn",
"transcript": "XM_011542968.4",
"protein_id": "XP_011541270.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 876,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1425T>C",
"hgvs_p": "p.Asn475Asn",
"transcript": "XM_047427509.1",
"protein_id": "XP_047283465.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 845,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1425T>C",
"hgvs_p": "p.Asn475Asn",
"transcript": "XM_047427511.1",
"protein_id": "XP_047283467.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 845,
"cds_start": 1425,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1683T>C",
"hgvs_p": "p.Asn561Asn",
"transcript": "XM_047427510.1",
"protein_id": "XP_047283466.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 832,
"cds_start": 1683,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.1511-2589T>C",
"hgvs_p": null,
"transcript": "ENST00000532133.5",
"protein_id": "ENSP00000435574.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": -4,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"dbsnp": "rs12366144",
"frequency_reference_population": 0.2465219,
"hom_count_reference_population": 53748,
"allele_count_reference_population": 397840,
"gnomad_exomes_af": 0.240167,
"gnomad_genomes_af": 0.307609,
"gnomad_exomes_ac": 351065,
"gnomad_genomes_ac": 46775,
"gnomad_exomes_homalt": 45006,
"gnomad_genomes_homalt": 8742,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.169,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000344327.8",
"gene_symbol": "TRPC6",
"hgnc_id": 12338,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1683T>C",
"hgvs_p": "p.Asn561Asn"
}
],
"clinvar_disease": "Focal segmental glomerulosclerosis 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Focal segmental glomerulosclerosis 2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}