← 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: 3-197675140-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=197675140&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 197675140,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001346873.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2797G>A",
"hgvs_p": "p.Glu933Lys",
"transcript": "NM_014687.4",
"protein_id": "NP_055502.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 972,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296343.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014687.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2797G>A",
"hgvs_p": "p.Glu933Lys",
"transcript": "ENST00000296343.10",
"protein_id": "ENSP00000296343.5",
"transcript_support_level": 1,
"aa_start": 933,
"aa_end": null,
"aa_length": 972,
"cds_start": 2797,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014687.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296343.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2914G>A",
"hgvs_p": "p.Glu972Lys",
"transcript": "NM_001346873.2",
"protein_id": "NP_001333802.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346873.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2914G>A",
"hgvs_p": "p.Glu972Lys",
"transcript": "ENST00000707076.1",
"protein_id": "ENSP00000516727.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2914,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707076.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2872G>A",
"hgvs_p": "p.Glu958Lys",
"transcript": "ENST00000854678.1",
"protein_id": "ENSP00000524737.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 997,
"cds_start": 2872,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854678.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2794G>A",
"hgvs_p": "p.Glu932Lys",
"transcript": "ENST00000935231.1",
"protein_id": "ENSP00000605290.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 971,
"cds_start": 2794,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935231.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2680G>A",
"hgvs_p": "p.Glu894Lys",
"transcript": "ENST00000413360.5",
"protein_id": "ENSP00000405115.1",
"transcript_support_level": 5,
"aa_start": 894,
"aa_end": null,
"aa_length": 933,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413360.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2662G>A",
"hgvs_p": "p.Glu888Lys",
"transcript": "NM_001145642.5",
"protein_id": "NP_001139114.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 927,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145642.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2662G>A",
"hgvs_p": "p.Glu888Lys",
"transcript": "ENST00000273582.9",
"protein_id": "ENSP00000273582.5",
"transcript_support_level": 5,
"aa_start": 888,
"aa_end": null,
"aa_length": 927,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273582.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2917G>A",
"hgvs_p": "p.Glu973Lys",
"transcript": "XM_006713827.4",
"protein_id": "XP_006713890.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713827.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2872G>A",
"hgvs_p": "p.Glu958Lys",
"transcript": "XM_006713828.4",
"protein_id": "XP_006713891.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 997,
"cds_start": 2872,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713828.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Glu952Lys",
"transcript": "XM_047449268.1",
"protein_id": "XP_047305224.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 991,
"cds_start": 2854,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449268.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Glu948Lys",
"transcript": "XM_005269374.4",
"protein_id": "XP_005269431.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 987,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269374.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2416G>A",
"hgvs_p": "p.Glu806Lys",
"transcript": "XM_006713831.5",
"protein_id": "XP_006713894.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 845,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713831.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Glu791Lys",
"transcript": "XM_017007543.2",
"protein_id": "XP_016863032.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 830,
"cds_start": 2371,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007543.2"
}
],
"gene_symbol": "RUBCN",
"gene_hgnc_id": 28991,
"dbsnp": "rs757331812",
"frequency_reference_population": 0.00004584814,
"hom_count_reference_population": 0,
"allele_count_reference_population": 74,
"gnomad_exomes_af": 0.0000485751,
"gnomad_genomes_af": 0.0000196889,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1124747097492218,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.1077,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.476,
"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_001346873.2",
"gene_symbol": "RUBCN",
"hgnc_id": 28991,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2914G>A",
"hgvs_p": "p.Glu972Lys"
}
],
"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
}