← Back to variant description
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: 11-101453039-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=101453039&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 101453039,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004621.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2712G>A",
"hgvs_p": "p.Gln904Gln",
"transcript": "NM_004621.6",
"protein_id": "NP_004612.2",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 931,
"cds_start": 2712,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": "ENST00000344327.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004621.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2712G>A",
"hgvs_p": "p.Gln904Gln",
"transcript": "ENST00000344327.8",
"protein_id": "ENSP00000340913.3",
"transcript_support_level": 1,
"aa_start": 904,
"aa_end": null,
"aa_length": 931,
"cds_start": 2712,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": "NM_004621.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344327.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2547G>A",
"hgvs_p": "p.Gln849Gln",
"transcript": "ENST00000360497.4",
"protein_id": "ENSP00000353687.4",
"transcript_support_level": 1,
"aa_start": 849,
"aa_end": null,
"aa_length": 876,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360497.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2364G>A",
"hgvs_p": "p.Gln788Gln",
"transcript": "ENST00000348423.8",
"protein_id": "ENSP00000343672.4",
"transcript_support_level": 1,
"aa_start": 788,
"aa_end": null,
"aa_length": 815,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348423.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2640G>A",
"hgvs_p": "p.Gln880Gln",
"transcript": "ENST00000893221.1",
"protein_id": "ENSP00000563280.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 907,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893221.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2637G>A",
"hgvs_p": "p.Gln879Gln",
"transcript": "ENST00000893220.1",
"protein_id": "ENSP00000563279.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 906,
"cds_start": 2637,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 3375,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893220.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2529G>A",
"hgvs_p": "p.Gln843Gln",
"transcript": "ENST00000962874.1",
"protein_id": "ENSP00000632933.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 870,
"cds_start": 2529,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962874.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2478G>A",
"hgvs_p": "p.Gln826Gln",
"transcript": "ENST00000532133.5",
"protein_id": "ENSP00000435574.1",
"transcript_support_level": 5,
"aa_start": 826,
"aa_end": null,
"aa_length": 853,
"cds_start": 2478,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532133.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2364G>A",
"hgvs_p": "p.Gln788Gln",
"transcript": "NM_001439335.1",
"protein_id": "NP_001426264.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 815,
"cds_start": 2364,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439335.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2547G>A",
"hgvs_p": "p.Gln849Gln",
"transcript": "XM_011542968.4",
"protein_id": "XP_011541270.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 876,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542968.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2454G>A",
"hgvs_p": "p.Gln818Gln",
"transcript": "XM_047427509.1",
"protein_id": "XP_047283465.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 845,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427509.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"hgvs_c": "c.2454G>A",
"hgvs_p": "p.Gln818Gln",
"transcript": "XM_047427511.1",
"protein_id": "XP_047283467.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 845,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2635,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427511.1"
}
],
"gene_symbol": "TRPC6",
"gene_hgnc_id": 12338,
"dbsnp": "rs12805398",
"frequency_reference_population": 0.11923436,
"hom_count_reference_population": 12329,
"allele_count_reference_population": 192398,
"gnomad_exomes_af": 0.122279,
"gnomad_genomes_af": 0.0899983,
"gnomad_exomes_ac": 178699,
"gnomad_genomes_ac": 13699,
"gnomad_exomes_homalt": 11487,
"gnomad_genomes_homalt": 842,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.081,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_004621.6",
"gene_symbol": "TRPC6",
"hgnc_id": 12338,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2712G>A",
"hgvs_p": "p.Gln904Gln"
}
],
"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
}