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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: 1-114587459-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=114587459&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 114587459,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001256404.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Trp",
"transcript": "NM_001256404.2",
"protein_id": "NP_001243333.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 928,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 3323,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": "ENST00000393274.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256404.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Trp",
"transcript": "ENST00000393274.6",
"protein_id": "ENSP00000376955.1",
"transcript_support_level": 5,
"aa_start": 895,
"aa_end": null,
"aa_length": 928,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 3323,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": "NM_001256404.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393274.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "n.2267C>T",
"hgvs_p": null,
"transcript": "ENST00000481894.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481894.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Trp",
"transcript": "ENST00000935533.1",
"protein_id": "ENSP00000605592.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 928,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 4466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935533.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Trp",
"transcript": "ENST00000970986.1",
"protein_id": "ENSP00000641045.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 928,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 5922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970986.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Trp",
"transcript": "ENST00000970987.1",
"protein_id": "ENSP00000641046.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 928,
"cds_start": 2683,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 3356,
"cdna_end": null,
"cdna_length": 4806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970987.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "NM_198459.4",
"protein_id": "NP_940861.3",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 871,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198459.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "ENST00000393276.7",
"protein_id": "ENSP00000376957.3",
"transcript_support_level": 5,
"aa_start": 838,
"aa_end": null,
"aa_length": 871,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2845,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393276.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"hgvs_c": "n.290C>T",
"hgvs_p": null,
"transcript": "ENST00000495031.5",
"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": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105378914",
"gene_hgnc_id": null,
"hgvs_c": "n.1371G>A",
"hgvs_p": null,
"transcript": "XR_947719.4",
"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": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_947719.4"
}
],
"gene_symbol": "DENND2C",
"gene_hgnc_id": 24748,
"dbsnp": "rs576430905",
"frequency_reference_population": 0.000011771281,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000109448,
"gnomad_genomes_af": 0.0000197081,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6643815040588379,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.433,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.993,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001256404.2",
"gene_symbol": "DENND2C",
"hgnc_id": 24748,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2683C>T",
"hgvs_p": "p.Arg895Trp"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "XR_947719.4",
"gene_symbol": "LOC105378914",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1371G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}