← 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: X-111894324-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111894324&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 111894324,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_012471.3",
"consequences": [
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRPC5",
"gene_hgnc_id": 12337,
"hgvs_c": "c.900+17967T>C",
"hgvs_p": null,
"transcript": "NM_012471.3",
"protein_id": "NP_036603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": null,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262839.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012471.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRPC5",
"gene_hgnc_id": 12337,
"hgvs_c": "c.900+17967T>C",
"hgvs_p": null,
"transcript": "ENST00000262839.3",
"protein_id": "ENSP00000262839.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": null,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012471.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262839.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRPC5OS",
"gene_hgnc_id": 40593,
"hgvs_c": "c.-545-1627A>G",
"hgvs_p": null,
"transcript": "NM_001195578.2",
"protein_id": "NP_001182507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000635763.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195578.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRPC5OS",
"gene_hgnc_id": 40593,
"hgvs_c": "c.-545-1627A>G",
"hgvs_p": null,
"transcript": "ENST00000635763.2",
"protein_id": "ENSP00000490533.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195578.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635763.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRPC5OS",
"gene_hgnc_id": 40593,
"hgvs_c": "c.-545-1627A>G",
"hgvs_p": null,
"transcript": "ENST00000371970.2",
"protein_id": "ENSP00000490135.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371970.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRPC5OS",
"gene_hgnc_id": 40593,
"hgvs_c": "c.-545-1627A>G",
"hgvs_p": null,
"transcript": "NM_001195576.1",
"protein_id": "NP_001182505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRPC5OS",
"gene_hgnc_id": 40593,
"hgvs_c": "c.-545-1627A>G",
"hgvs_p": null,
"transcript": "NM_001195577.2",
"protein_id": "NP_001182506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195577.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRPC5OS",
"gene_hgnc_id": 40593,
"hgvs_c": "c.-545-1627A>G",
"hgvs_p": null,
"transcript": "ENST00000612026.5",
"protein_id": "ENSP00000490633.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612026.5"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TRPC5",
"gene_hgnc_id": 12337,
"hgvs_c": "c.900+17967T>C",
"hgvs_p": null,
"transcript": "XM_017029774.2",
"protein_id": "XP_016885263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": null,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029774.2"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRPC5",
"gene_hgnc_id": 12337,
"hgvs_c": "c.900+17967T>C",
"hgvs_p": null,
"transcript": "XM_047442413.1",
"protein_id": "XP_047298369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442413.1"
}
],
"gene_symbol": "TRPC5",
"gene_hgnc_id": 12337,
"dbsnp": "rs10521536",
"frequency_reference_population": 0.16614038,
"hom_count_reference_population": 7861,
"allele_count_reference_population": 18520,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.16614,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 18520,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2797,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.126,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_012471.3",
"gene_symbol": "TRPC5",
"hgnc_id": 12337,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.900+17967T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001195576.1",
"gene_symbol": "TRPC5OS",
"hgnc_id": 40593,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-545-1627A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}