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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: 3-49375576-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49375576&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49375576,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000418115.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "NM_001664.4",
"protein_id": "NP_001655.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 193,
"cds_start": 14,
"cds_end": null,
"cds_length": 582,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": "ENST00000418115.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000418115.6",
"protein_id": "ENSP00000400175.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 193,
"cds_start": 14,
"cds_end": null,
"cds_length": 582,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": "NM_001664.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290318",
"gene_hgnc_id": null,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000704381.1",
"protein_id": "ENSP00000515884.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 163,
"cds_start": 14,
"cds_end": null,
"cds_length": 492,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "NM_001313941.2",
"protein_id": "NP_001300870.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 193,
"cds_start": 14,
"cds_end": null,
"cds_length": 582,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000445425.6",
"protein_id": "ENSP00000408402.3",
"transcript_support_level": 3,
"aa_start": 5,
"aa_end": null,
"aa_length": 193,
"cds_start": 14,
"cds_end": null,
"cds_length": 582,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000678200.1",
"protein_id": "ENSP00000504180.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 193,
"cds_start": 14,
"cds_end": null,
"cds_length": 582,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000679208.1",
"protein_id": "ENSP00000503282.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 193,
"cds_start": 14,
"cds_end": null,
"cds_length": 582,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "NM_001313943.2",
"protein_id": "NP_001300872.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 187,
"cds_start": 14,
"cds_end": null,
"cds_length": 564,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000422781.6",
"protein_id": "ENSP00000413587.1",
"transcript_support_level": 2,
"aa_start": 5,
"aa_end": null,
"aa_length": 187,
"cds_start": 14,
"cds_end": null,
"cds_length": 564,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "NM_001313944.2",
"protein_id": "NP_001300873.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 173,
"cds_start": 14,
"cds_end": null,
"cds_length": 522,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000678921.2",
"protein_id": "ENSP00000503490.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 137,
"cds_start": 14,
"cds_end": null,
"cds_length": 414,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "NM_001313946.2",
"protein_id": "NP_001300875.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 109,
"cds_start": 14,
"cds_end": null,
"cds_length": 330,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000676712.2",
"protein_id": "ENSP00000504603.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 109,
"cds_start": 14,
"cds_end": null,
"cds_length": 330,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "NM_001313947.2",
"protein_id": "NP_001300876.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 90,
"cds_start": 14,
"cds_end": null,
"cds_length": 273,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu",
"transcript": "ENST00000454011.7",
"protein_id": "ENSP00000394483.2",
"transcript_support_level": 2,
"aa_start": 5,
"aa_end": null,
"aa_length": 90,
"cds_start": 14,
"cds_end": null,
"cds_length": 273,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "n.294G>T",
"hgvs_p": null,
"transcript": "ENST00000431929.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "n.14G>T",
"hgvs_p": null,
"transcript": "ENST00000677684.1",
"protein_id": "ENSP00000504494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"hgvs_c": "c.-147-83G>T",
"hgvs_p": null,
"transcript": "NM_001313945.2",
"protein_id": "NP_001300874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RHOA",
"gene_hgnc_id": 667,
"dbsnp": "rs1057519953",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7932361960411072,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.43,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9684,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.739,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000418115.6",
"gene_symbol": "RHOA",
"hgnc_id": 667,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000704381.1",
"gene_symbol": "ENSG00000290318",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Arg5Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}