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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: 9-128284601-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128284601&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128284601,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001379267.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.203T>G",
"hgvs_p": "p.Leu68Arg",
"transcript": "NM_001318089.2",
"protein_id": "NP_001305018.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 130,
"cds_start": 203,
"cds_end": null,
"cds_length": 393,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 731,
"mane_select": "ENST00000418976.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318089.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.203T>G",
"hgvs_p": "p.Leu68Arg",
"transcript": "ENST00000418976.3",
"protein_id": "ENSP00000411469.3",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 130,
"cds_start": 203,
"cds_end": null,
"cds_length": 393,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 731,
"mane_select": "NM_001318089.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418976.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000608796.6",
"protein_id": "ENSP00000476650.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 170,
"cds_start": 323,
"cds_end": null,
"cds_length": 513,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608796.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "ENST00000419867.7",
"protein_id": "ENSP00000477295.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 151,
"cds_start": 323,
"cds_end": null,
"cds_length": 456,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419867.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.350T>G",
"hgvs_p": "p.Leu117Arg",
"transcript": "NM_001379267.1",
"protein_id": "NP_001366196.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 179,
"cds_start": 350,
"cds_end": null,
"cds_length": 540,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379267.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.323T>G",
"hgvs_p": "p.Leu108Arg",
"transcript": "NM_001040011.2",
"protein_id": "NP_001035100.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 170,
"cds_start": 323,
"cds_end": null,
"cds_length": 513,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040011.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.245T>G",
"hgvs_p": "p.Leu82Arg",
"transcript": "ENST00000372898.6",
"protein_id": "ENSP00000361989.2",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 144,
"cds_start": 245,
"cds_end": null,
"cds_length": 435,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372898.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.230T>G",
"hgvs_p": "p.Leu77Arg",
"transcript": "NM_001318092.2",
"protein_id": "NP_001305021.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 139,
"cds_start": 230,
"cds_end": null,
"cds_length": 420,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318092.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "c.230T>G",
"hgvs_p": "p.Leu77Arg",
"transcript": "ENST00000495313.5",
"protein_id": "ENSP00000419719.2",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 139,
"cds_start": 230,
"cds_end": null,
"cds_length": 420,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495313.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "n.203T>G",
"hgvs_p": null,
"transcript": "ENST00000652598.1",
"protein_id": "ENSP00000498805.2",
"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": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652598.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"hgvs_c": "n.203T>G",
"hgvs_p": null,
"transcript": "ENST00000696406.1",
"protein_id": "ENSP00000512608.1",
"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": 990,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696406.1"
}
],
"gene_symbol": "SWI5",
"gene_hgnc_id": 31412,
"dbsnp": "rs754470996",
"frequency_reference_population": 0.000050191535,
"hom_count_reference_population": 0,
"allele_count_reference_population": 81,
"gnomad_exomes_af": 0.0000513095,
"gnomad_genomes_af": 0.0000394477,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8153252601623535,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.493,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.45,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001379267.1",
"gene_symbol": "SWI5",
"hgnc_id": 31412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.350T>G",
"hgvs_p": "p.Leu117Arg"
}
],
"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
}