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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: 19-35295885-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35295885&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35295885,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000392213.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Val107Ile",
"transcript": "NM_002361.4",
"protein_id": "NP_002352.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 626,
"cds_start": 319,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": "ENST00000392213.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Val107Ile",
"transcript": "ENST00000392213.8",
"protein_id": "ENSP00000376048.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 626,
"cds_start": 319,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": "NM_002361.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Val82Ile",
"transcript": "ENST00000537831.2",
"protein_id": "ENSP00000440695.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 601,
"cds_start": 244,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Val107Ile",
"transcript": "ENST00000361922.8",
"protein_id": "ENSP00000355234.4",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 582,
"cds_start": 319,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Val82Ile",
"transcript": "NM_001199216.2",
"protein_id": "NP_001186145.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 601,
"cds_start": 244,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Val107Ile",
"transcript": "NM_080600.3",
"protein_id": "NP_542167.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 582,
"cds_start": 319,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Val107Ile",
"transcript": "ENST00000595791.5",
"protein_id": "ENSP00000473125.1",
"transcript_support_level": 4,
"aa_start": 107,
"aa_end": null,
"aa_length": 157,
"cds_start": 319,
"cds_end": null,
"cds_length": 475,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Val82Ile",
"transcript": "ENST00000600291.5",
"protein_id": "ENSP00000470772.1",
"transcript_support_level": 4,
"aa_start": 82,
"aa_end": null,
"aa_length": 130,
"cds_start": 244,
"cds_end": null,
"cds_length": 394,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"hgvs_c": "c.176+143G>A",
"hgvs_p": null,
"transcript": "ENST00000597035.5",
"protein_id": "ENSP00000473245.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": -4,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAG",
"gene_hgnc_id": 6783,
"dbsnp": "rs186777043",
"frequency_reference_population": 0.000016108128,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000129979,
"gnomad_genomes_af": 0.0000459565,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028155475854873657,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.0826,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.615,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392213.8",
"gene_symbol": "MAG",
"hgnc_id": 6783,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Val107Ile"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 75,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary spastic paraplegia 75|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}