← 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: 6-24777278-AAATC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24777278&ref=AAATC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24777278,
"ref": "AAATC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000230056.8",
"consequences": [
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "NM_015895.5",
"protein_id": "NP_056979.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 35,
"cds_end": null,
"cds_length": 630,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": "ENST00000230056.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "ENST00000230056.8",
"protein_id": "ENSP00000230056.3",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 35,
"cds_end": null,
"cds_length": 630,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": "NM_015895.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "NM_001251989.2",
"protein_id": "NP_001238918.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 35,
"cds_end": null,
"cds_length": 630,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "NM_001251990.2",
"protein_id": "NP_001238919.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 35,
"cds_end": null,
"cds_length": 630,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "NM_001251991.1",
"protein_id": "NP_001238920.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 35,
"cds_end": null,
"cds_length": 630,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "ENST00000356509.7",
"protein_id": "ENSP00000348902.3",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 35,
"cds_end": null,
"cds_length": 630,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "ENST00000620958.4",
"protein_id": "ENSP00000477506.1",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 35,
"cds_end": null,
"cds_length": 630,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "ENST00000378054.6",
"protein_id": "ENSP00000367293.2",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 178,
"cds_start": 35,
"cds_end": null,
"cds_length": 538,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "ENST00000378059.3",
"protein_id": "ENSP00000367298.3",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 101,
"cds_start": 35,
"cds_end": null,
"cds_length": 307,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "ENST00000476555.5",
"protein_id": "ENSP00000419584.1",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 64,
"cds_start": 35,
"cds_end": null,
"cds_length": 197,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs",
"transcript": "XM_005249159.3",
"protein_id": "XP_005249216.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 209,
"cds_start": 35,
"cds_end": null,
"cds_length": 630,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"hgvs_c": "n.224_227delTCAA",
"hgvs_p": null,
"transcript": "ENST00000468943.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GMNN",
"gene_hgnc_id": 17493,
"dbsnp": "rs864309487",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"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": 1.46,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000230056.8",
"gene_symbol": "GMNN",
"hgnc_id": 17493,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.35_38delTCAA",
"hgvs_p": "p.Ile12fs"
}
],
"clinvar_disease": "Meier-Gorlin syndrome,Meier-Gorlin syndrome 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Meier-Gorlin syndrome 6|Meier-Gorlin syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}