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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: 19-48720848-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48720848&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48720848,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017805.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Glu948Gln",
"transcript": "NM_017805.3",
"protein_id": "NP_060275.2",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 963,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2936,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": "ENST00000222145.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017805.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Glu948Gln",
"transcript": "ENST00000222145.9",
"protein_id": "ENSP00000222145.3",
"transcript_support_level": 1,
"aa_start": 948,
"aa_end": null,
"aa_length": 963,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2936,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": "NM_017805.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222145.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Glu960Gln",
"transcript": "ENST00000963671.1",
"protein_id": "ENSP00000633730.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 975,
"cds_start": 2878,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2973,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963671.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2872G>C",
"hgvs_p": "p.Glu958Gln",
"transcript": "ENST00000862294.1",
"protein_id": "ENSP00000532353.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 973,
"cds_start": 2872,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862294.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2848G>C",
"hgvs_p": "p.Glu950Gln",
"transcript": "ENST00000862296.1",
"protein_id": "ENSP00000532355.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 965,
"cds_start": 2848,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862296.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Glu948Gln",
"transcript": "ENST00000963672.1",
"protein_id": "ENSP00000633731.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 963,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 3150,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963672.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2713G>C",
"hgvs_p": "p.Glu905Gln",
"transcript": "ENST00000862298.1",
"protein_id": "ENSP00000532357.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 920,
"cds_start": 2713,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862298.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2578G>C",
"hgvs_p": "p.Glu860Gln",
"transcript": "ENST00000963673.1",
"protein_id": "ENSP00000633732.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 875,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963673.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2548G>C",
"hgvs_p": "p.Glu850Gln",
"transcript": "ENST00000862295.1",
"protein_id": "ENSP00000532354.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 865,
"cds_start": 2548,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 2905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862295.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2218G>C",
"hgvs_p": "p.Glu740Gln",
"transcript": "ENST00000963674.1",
"protein_id": "ENSP00000633733.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 755,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963674.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Glu730Gln",
"transcript": "ENST00000862297.1",
"protein_id": "ENSP00000532356.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 745,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862297.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"hgvs_c": "n.1336G>C",
"hgvs_p": null,
"transcript": "ENST00000601530.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000601530.1"
}
],
"gene_symbol": "RASIP1",
"gene_hgnc_id": 24716,
"dbsnp": "rs140266474",
"frequency_reference_population": 6.8411714e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84117e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2519780397415161,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.2313,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.586,
"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": 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_017805.3",
"gene_symbol": "RASIP1",
"hgnc_id": 24716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2842G>C",
"hgvs_p": "p.Glu948Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}