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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: 9-122245294-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122245294&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122245294,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033117.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.375G>C",
"hgvs_p": "p.Glu125Asp",
"transcript": "NM_033117.4",
"protein_id": "NP_149108.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 190,
"cds_start": 375,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417201.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033117.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.375G>C",
"hgvs_p": "p.Glu125Asp",
"transcript": "ENST00000417201.4",
"protein_id": "ENSP00000409315.2",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 190,
"cds_start": 375,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033117.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417201.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "n.565G>C",
"hgvs_p": null,
"transcript": "ENST00000483428.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483428.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.408G>C",
"hgvs_p": "p.Glu136Asp",
"transcript": "ENST00000870819.1",
"protein_id": "ENSP00000540878.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 201,
"cds_start": 408,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870819.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.375G>C",
"hgvs_p": "p.Glu125Asp",
"transcript": "ENST00000870815.1",
"protein_id": "ENSP00000540874.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 190,
"cds_start": 375,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870815.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.375G>C",
"hgvs_p": "p.Glu125Asp",
"transcript": "ENST00000870817.1",
"protein_id": "ENSP00000540876.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 190,
"cds_start": 375,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870817.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.375G>C",
"hgvs_p": "p.Glu125Asp",
"transcript": "ENST00000870818.1",
"protein_id": "ENSP00000540877.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 190,
"cds_start": 375,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870818.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.375G>C",
"hgvs_p": "p.Glu125Asp",
"transcript": "ENST00000870820.1",
"protein_id": "ENSP00000540879.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 190,
"cds_start": 375,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870820.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.288G>C",
"hgvs_p": "p.Glu96Asp",
"transcript": "ENST00000919718.1",
"protein_id": "ENSP00000589777.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 161,
"cds_start": 288,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919718.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.285G>C",
"hgvs_p": "p.Glu95Asp",
"transcript": "ENST00000870816.1",
"protein_id": "ENSP00000540875.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 160,
"cds_start": 285,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870816.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "c.285G>C",
"hgvs_p": "p.Glu95Asp",
"transcript": "ENST00000919715.1",
"protein_id": "ENSP00000589775.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 160,
"cds_start": 285,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "n.77G>C",
"hgvs_p": null,
"transcript": "ENST00000491850.5",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491850.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "n.517G>C",
"hgvs_p": null,
"transcript": "NR_027125.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027125.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"hgvs_c": "n.611G>C",
"hgvs_p": null,
"transcript": "NR_027126.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027126.2"
}
],
"gene_symbol": "RBM18",
"gene_hgnc_id": 28413,
"dbsnp": null,
"frequency_reference_population": 0.0000013709691,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137097,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25417381525039673,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.4172,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.886,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033117.4",
"gene_symbol": "RBM18",
"hgnc_id": 28413,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.375G>C",
"hgvs_p": "p.Glu125Asp"
}
],
"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
}