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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: 15-89631708-GGC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89631708&ref=GGC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89631708,
"ref": "GGC",
"alt": "G",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000394412.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2896_2897delGC",
"hgvs_p": "p.Ala966fs",
"transcript": "NM_198525.3",
"protein_id": "NP_940927.2",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1343,
"cds_start": 2896,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": "ENST00000394412.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2896_2897delGC",
"hgvs_p": "p.Ala966fs",
"transcript": "ENST00000394412.8",
"protein_id": "ENSP00000377934.3",
"transcript_support_level": 5,
"aa_start": 966,
"aa_end": null,
"aa_length": 1343,
"cds_start": 2896,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": "NM_198525.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3019_3020delGC",
"hgvs_p": "p.Ala1007fs",
"transcript": "ENST00000696512.1",
"protein_id": "ENSP00000512678.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3019,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3084,
"cdna_end": null,
"cdna_length": 4661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3019_3020delGC",
"hgvs_p": "p.Ala1007fs",
"transcript": "XM_011521531.3",
"protein_id": "XP_011519833.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3019,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3013_3014delGC",
"hgvs_p": "p.Ala1005fs",
"transcript": "XM_047432477.1",
"protein_id": "XP_047288433.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3013,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 3041,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2893_2894delGC",
"hgvs_p": "p.Ala965fs",
"transcript": "XM_047432478.1",
"protein_id": "XP_047288434.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2893,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2893_2894delGC",
"hgvs_p": "p.Ala965fs",
"transcript": "XM_047432479.1",
"protein_id": "XP_047288435.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2893,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2890_2891delGC",
"hgvs_p": "p.Ala964fs",
"transcript": "XM_047432480.1",
"protein_id": "XP_047288436.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2890,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 2984,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.2893_2894delGC",
"hgvs_p": "p.Ala965fs",
"transcript": "XM_047432481.1",
"protein_id": "XP_047288437.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1312,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "n.570_571delGC",
"hgvs_p": null,
"transcript": "ENST00000677187.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"dbsnp": "rs752248403",
"frequency_reference_population": 0.000022567308,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000185887,
"gnomad_genomes_af": 0.0000591273,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 9,
"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": 1,
"splice_prediction_selected": "Pathogenic",
"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": 9.499,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 20,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 20,
"benign_score": 0,
"pathogenic_score": 20,
"criteria": [
"PVS1",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000394412.8",
"gene_symbol": "KIF7",
"hgnc_id": 30497,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2896_2897delGC",
"hgvs_p": "p.Ala966fs"
}
],
"clinvar_disease": " Al-Gazali type,Acrocallosal syndrome,Hydrolethalus syndrome 2,Multiple epiphyseal dysplasia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Acrocallosal syndrome|Hydrolethalus syndrome 2|Multiple epiphyseal dysplasia, Al-Gazali type|Acrocallosal syndrome;Multiple epiphyseal dysplasia, Al-Gazali type;Hydrolethalus syndrome 2|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}