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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: 11-19192401-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19192401&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 19192401,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000265968.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "NM_003476.5",
"protein_id": "NP_003467.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 194,
"cds_start": 48,
"cds_end": null,
"cds_length": 585,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": "ENST00000265968.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "ENST00000265968.9",
"protein_id": "ENSP00000265968.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 194,
"cds_start": 48,
"cds_end": null,
"cds_length": 585,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": "NM_003476.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "ENST00000533783.2",
"protein_id": "ENSP00000431813.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 194,
"cds_start": 48,
"cds_end": null,
"cds_length": 585,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "ENST00000649235.1",
"protein_id": "ENSP00000497388.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 194,
"cds_start": 48,
"cds_end": null,
"cds_length": 585,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "ENST00000647990.1",
"protein_id": "ENSP00000496798.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 162,
"cds_start": 48,
"cds_end": null,
"cds_length": 489,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "NM_001369404.1",
"protein_id": "NP_001356333.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 150,
"cds_start": 48,
"cds_end": null,
"cds_length": 453,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "ENST00000649842.1",
"protein_id": "ENSP00000497531.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 150,
"cds_start": 48,
"cds_end": null,
"cds_length": 453,
"cdna_start": 112,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr",
"transcript": "ENST00000648719.1",
"protein_id": "ENSP00000497633.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 59,
"cds_start": 48,
"cds_end": null,
"cds_length": 180,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSRP3",
"gene_hgnc_id": 2472,
"dbsnp": "rs753120437",
"frequency_reference_population": 0.000004336981,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.0000041043,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.693,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000265968.9",
"gene_symbol": "CSRP3",
"hgnc_id": 2472,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,SD",
"hgvs_c": "c.48C>T",
"hgvs_p": "p.Thr16Thr"
}
],
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1M,Hypertrophic cardiomyopathy 12,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}