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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: 8-99875400-A-ATTAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=99875400&ref=A&alt=ATTAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 99875400,
"ref": "A",
"alt": "ATTAT",
"effect": "intron_variant",
"transcript": "NM_017890.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.11821-15_11821-12dupATTT",
"hgvs_p": null,
"transcript": "NM_017890.5",
"protein_id": "NP_060360.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4022,
"cds_start": null,
"cds_end": null,
"cds_length": 12069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000358544.7",
"biotype": "protein_coding",
"feature": "NM_017890.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.11821-18_11821-17insTTAT",
"hgvs_p": null,
"transcript": "ENST00000358544.7",
"protein_id": "ENSP00000351346.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4022,
"cds_start": null,
"cds_end": null,
"cds_length": 12069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_017890.5",
"biotype": "protein_coding",
"feature": "ENST00000358544.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.11746-15_11746-12dupATTT",
"hgvs_p": null,
"transcript": "NM_152564.5",
"protein_id": "NP_689777.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3997,
"cds_start": null,
"cds_end": null,
"cds_length": 11994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357162.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152564.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "c.11746-18_11746-17insTTAT",
"hgvs_p": null,
"transcript": "ENST00000357162.7",
"protein_id": "ENSP00000349685.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3997,
"cds_start": null,
"cds_end": null,
"cds_length": 11994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152564.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357162.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.1323-18_1323-17insTTAT",
"hgvs_p": null,
"transcript": "ENST00000493587.1",
"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": "ENST00000493587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COX6C",
"gene_hgnc_id": 2285,
"hgvs_c": "n.*142-309_*142-308insATAA",
"hgvs_p": null,
"transcript": "ENST00000520517.5",
"protein_id": "ENSP00000429991.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000520517.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COX6C",
"gene_hgnc_id": 2285,
"hgvs_c": "n.*142-2108_*142-2107insATAA",
"hgvs_p": null,
"transcript": "ENST00000522934.5",
"protein_id": "ENSP00000428702.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000522934.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.*1475-18_*1475-17insTTAT",
"hgvs_p": null,
"transcript": "ENST00000682153.1",
"protein_id": "ENSP00000507923.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000682153.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": 60,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.12451-18_12451-17insTTAT",
"hgvs_p": null,
"transcript": "ENST00000682358.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000682358.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": 60,
"intron_rank_end": null,
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"hgvs_c": "n.*7503-18_*7503-17insTTAT",
"hgvs_p": null,
"transcript": "ENST00000683334.1",
"protein_id": "ENSP00000507369.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000683334.1"
}
],
"gene_symbol": "VPS13B",
"gene_hgnc_id": 2183,
"dbsnp": "rs1817651062",
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.193,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017890.5",
"gene_symbol": "VPS13B",
"hgnc_id": 2183,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11821-15_11821-12dupATTT",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000520517.5",
"gene_symbol": "COX6C",
"hgnc_id": 2285,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*142-309_*142-308insATAA",
"hgvs_p": null
}
],
"clinvar_disease": "Cohen syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Cohen syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}