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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: 6-31811455-CTTA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31811455&ref=CTTA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31811455,
"ref": "CTTA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_005527.4",
"consequences": [
{
"aa_ref": "LR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del",
"transcript": "NM_005527.4",
"protein_id": "NP_005518.3",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 641,
"cds_start": 515,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375654.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005527.4"
},
{
"aa_ref": "LR",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del",
"transcript": "ENST00000375654.5",
"protein_id": "ENSP00000364805.4",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 641,
"cds_start": 515,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005527.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375654.5"
},
{
"aa_ref": "LR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del",
"transcript": "ENST00000879288.1",
"protein_id": "ENSP00000549347.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 641,
"cds_start": 515,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879288.1"
},
{
"aa_ref": "LR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del",
"transcript": "ENST00000879289.1",
"protein_id": "ENSP00000549348.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 641,
"cds_start": 515,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879289.1"
},
{
"aa_ref": "LR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del",
"transcript": "ENST00000879290.1",
"protein_id": "ENSP00000549349.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 641,
"cds_start": 515,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879290.1"
},
{
"aa_ref": "LR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del",
"transcript": "ENST00000879291.1",
"protein_id": "ENSP00000549350.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 641,
"cds_start": 515,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879291.1"
},
{
"aa_ref": "LR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del",
"transcript": "ENST00000879292.1",
"protein_id": "ENSP00000549351.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 641,
"cds_start": 515,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879292.1"
},
{
"aa_ref": "LR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del",
"transcript": "ENST00000954474.1",
"protein_id": "ENSP00000624533.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 641,
"cds_start": 515,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954474.1"
}
],
"gene_symbol": "HSPA1L",
"gene_hgnc_id": 5234,
"dbsnp": "rs750447828",
"frequency_reference_population": 0.00021498554,
"hom_count_reference_population": 0,
"allele_count_reference_population": 347,
"gnomad_exomes_af": 0.000225736,
"gnomad_genomes_af": 0.000111711,
"gnomad_exomes_ac": 330,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.19,
"phylop100way_prediction": "Uncertain_significance",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4_Supporting,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005527.4",
"gene_symbol": "HSPA1L",
"hgnc_id": 5234,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.515_517delTAA",
"hgvs_p": "p.Leu172del"
}
],
"clinvar_disease": "Inflammatory bowel disease 1",
"clinvar_classification": "association",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Inflammatory bowel disease 1",
"pathogenicity_classification_combined": "association",
"custom_annotations": null
}
],
"message": null
}