← Back to variant description
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: 3-197681350-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=197681350&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 197681350,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000296343.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2209C>A",
"hgvs_p": "p.Arg737Arg",
"transcript": "NM_014687.4",
"protein_id": "NP_055502.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 972,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 9255,
"mane_select": "ENST00000296343.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2209C>A",
"hgvs_p": "p.Arg737Arg",
"transcript": "ENST00000296343.10",
"protein_id": "ENSP00000296343.5",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 972,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 9255,
"mane_select": "NM_014687.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.1558C>A",
"hgvs_p": "p.Arg520Arg",
"transcript": "ENST00000415452.5",
"protein_id": "ENSP00000409618.1",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 679,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Arg776Arg",
"transcript": "NM_001346873.2",
"protein_id": "NP_001333802.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2326,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 9372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Arg776Arg",
"transcript": "ENST00000707076.1",
"protein_id": "ENSP00000516727.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2326,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2092C>A",
"hgvs_p": "p.Arg698Arg",
"transcript": "ENST00000413360.5",
"protein_id": "ENSP00000405115.1",
"transcript_support_level": 5,
"aa_start": 698,
"aa_end": null,
"aa_length": 933,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2074C>A",
"hgvs_p": "p.Arg692Arg",
"transcript": "NM_001145642.5",
"protein_id": "NP_001139114.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 927,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2741,
"cdna_end": null,
"cdna_length": 9602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2074C>A",
"hgvs_p": "p.Arg692Arg",
"transcript": "ENST00000273582.9",
"protein_id": "ENSP00000273582.5",
"transcript_support_level": 5,
"aa_start": 692,
"aa_end": null,
"aa_length": 927,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2620,
"cdna_end": null,
"cdna_length": 6955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2329C>A",
"hgvs_p": "p.Arg777Arg",
"transcript": "XM_006713827.4",
"protein_id": "XP_006713890.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2329,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 9375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2284C>A",
"hgvs_p": "p.Arg762Arg",
"transcript": "XM_006713828.4",
"protein_id": "XP_006713891.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 997,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 9330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2266C>A",
"hgvs_p": "p.Arg756Arg",
"transcript": "XM_047449268.1",
"protein_id": "XP_047305224.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 991,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2940,
"cdna_end": null,
"cdna_length": 9801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2254C>A",
"hgvs_p": "p.Arg752Arg",
"transcript": "XM_005269374.4",
"protein_id": "XP_005269431.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 987,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 9300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.1828C>A",
"hgvs_p": "p.Arg610Arg",
"transcript": "XM_006713831.5",
"protein_id": "XP_006713894.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 845,
"cds_start": 1828,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 9523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.1783C>A",
"hgvs_p": "p.Arg595Arg",
"transcript": "XM_017007543.2",
"protein_id": "XP_016863032.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 830,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 9176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"dbsnp": "rs770720829",
"frequency_reference_population": 0.0000068512013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000068512,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7990000247955322,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.799,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.039,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000296343.10",
"gene_symbol": "RUBCN",
"hgnc_id": 28991,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2209C>A",
"hgvs_p": "p.Arg737Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}