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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: 9-33265116-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33265116&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 33265116,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016410.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "NM_016410.6",
"protein_id": "NP_057494.3",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 219,
"cds_start": 38,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223500.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016410.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000223500.9",
"protein_id": "ENSP00000223500.7",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 219,
"cds_start": 38,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016410.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223500.9"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000937845.1",
"protein_id": "ENSP00000607904.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 232,
"cds_start": 38,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937845.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000948350.1",
"protein_id": "ENSP00000618409.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 228,
"cds_start": 38,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948350.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000948351.1",
"protein_id": "ENSP00000618410.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 228,
"cds_start": 38,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948351.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000909949.1",
"protein_id": "ENSP00000580008.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 219,
"cds_start": 38,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909949.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000909950.1",
"protein_id": "ENSP00000580009.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 219,
"cds_start": 38,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909950.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000909951.1",
"protein_id": "ENSP00000580010.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 219,
"cds_start": 38,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909951.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000909952.1",
"protein_id": "ENSP00000580011.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 219,
"cds_start": 38,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909952.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000937844.1",
"protein_id": "ENSP00000607903.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 219,
"cds_start": 38,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937844.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000909954.1",
"protein_id": "ENSP00000580013.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 214,
"cds_start": 38,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909954.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000937846.1",
"protein_id": "ENSP00000607905.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 172,
"cds_start": 38,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937846.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "NM_001195536.2",
"protein_id": "NP_001182465.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 171,
"cds_start": 38,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195536.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000419016.6",
"protein_id": "ENSP00000442725.1",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 171,
"cds_start": 38,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419016.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000937847.1",
"protein_id": "ENSP00000607906.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 148,
"cds_start": 38,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937847.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln",
"transcript": "ENST00000909953.1",
"protein_id": "ENSP00000580012.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 137,
"cds_start": 38,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909953.1"
}
],
"gene_symbol": "CHMP5",
"gene_hgnc_id": 26942,
"dbsnp": "rs1587794817",
"frequency_reference_population": 0.0000034202628,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342026,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8067440986633301,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.558,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.218,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.028,
"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_016410.6",
"gene_symbol": "CHMP5",
"hgnc_id": 26942,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.38C>A",
"hgvs_p": "p.Pro13Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}