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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: 11-107630714-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=107630714&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELMOD1",
"hgnc_id": 25334,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Asp60Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_018712.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0709,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05668339133262634,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 334,
"aa_ref": "D",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1005,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_018712.4",
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Asp60Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265840.12",
"protein_coding": true,
"protein_id": "NP_061182.3",
"strand": true,
"transcript": "NM_018712.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 334,
"aa_ref": "D",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1005,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000265840.12",
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Asp60Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018712.4",
"protein_coding": true,
"protein_id": "ENSP00000265840.7",
"strand": true,
"transcript": "ENST00000265840.12",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 662,
"cds_end": null,
"cds_length": 987,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001308018.2",
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Asp54Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001294947.1",
"strand": true,
"transcript": "NM_001308018.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 718,
"cds_end": null,
"cds_length": 987,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000531234.5",
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Asp54Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433232.1",
"strand": true,
"transcript": "ENST00000531234.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 326,
"aa_ref": "D",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2911,
"cdna_start": 526,
"cds_end": null,
"cds_length": 981,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001130037.2",
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Asp60Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123509.1",
"strand": true,
"transcript": "NM_001130037.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 326,
"aa_ref": "D",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 424,
"cds_end": null,
"cds_length": 981,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000443271.2",
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Asp60Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412257.2",
"strand": true,
"transcript": "ENST00000443271.2",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 326,
"aa_ref": "D",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 436,
"cds_end": null,
"cds_length": 981,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959907.1",
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Asp60Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629966.1",
"strand": true,
"transcript": "ENST00000959907.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 323,
"aa_ref": "D",
"aa_start": 60,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 333,
"cds_end": null,
"cds_length": 972,
"cds_start": 178,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959906.1",
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Asp60Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629965.1",
"strand": true,
"transcript": "ENST00000959906.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs754171634",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25334,
"gene_symbol": "ELMOD1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.891,
"pos": 107630714,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.036,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_018712.4"
}
]
}