← 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: 7-24749655-CTTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24749655&ref=CTTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 24749655,
"ref": "CTTTT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_004403.3",
"consequences": [
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "NM_001127453.2",
"protein_id": "NP_001120925.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645220.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127453.2"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "ENST00000645220.1",
"protein_id": "ENSP00000494186.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127453.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645220.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "ENST00000342947.9",
"protein_id": "ENSP00000339587.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342947.9"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.-281-4905_-281-4902delAAAA",
"hgvs_p": null,
"transcript": "ENST00000419307.6",
"protein_id": "ENSP00000401332.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419307.6"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "NM_004403.3",
"protein_id": "NP_004394.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004403.3"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "ENST00000896380.1",
"protein_id": "ENSP00000566439.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896380.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "ENST00000924586.1",
"protein_id": "ENSP00000594645.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924586.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "ENST00000949624.1",
"protein_id": "ENSP00000619683.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949624.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "ENST00000949625.1",
"protein_id": "ENSP00000619684.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949625.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "ENST00000896379.1",
"protein_id": "ENSP00000566438.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 495,
"cds_start": 116,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896379.1"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "ENST00000414428.2",
"protein_id": "ENSP00000413963.2",
"transcript_support_level": 4,
"aa_start": 39,
"aa_end": null,
"aa_length": 356,
"cds_start": 116,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414428.2"
},
{
"aa_ref": "KK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs",
"transcript": "XM_024446670.2",
"protein_id": "XP_024302438.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 496,
"cds_start": 116,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446670.2"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.-281-4905_-281-4902delAAAA",
"hgvs_p": null,
"transcript": "NM_001127454.2",
"protein_id": "NP_001120926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127454.2"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.-281-4905_-281-4902delAAAA",
"hgvs_p": null,
"transcript": "NM_001438059.1",
"protein_id": "NP_001424988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438059.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.-281-4905_-281-4902delAAAA",
"hgvs_p": null,
"transcript": "ENST00000409970.6",
"protein_id": "ENSP00000387119.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409970.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "n.136_139delAAAA",
"hgvs_p": null,
"transcript": "ENST00000473990.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473990.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "n.135_138delAAAA",
"hgvs_p": null,
"transcript": "ENST00000493723.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493723.5"
}
],
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"dbsnp": "rs758488919",
"frequency_reference_population": 0.000004336884,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410457,
"gnomad_genomes_af": 0.00000656694,
"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": 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": 6.779,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1,BS2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 4,
"pathogenic_score": 8,
"criteria": [
"PVS1",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004403.3",
"gene_symbol": "GSDME",
"hgnc_id": 2810,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.116_119delAAAA",
"hgvs_p": "p.Lys39fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}