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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: 19-1068739-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1068739&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1068739,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000313093.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Pro",
"transcript": "NM_012292.5",
"protein_id": "NP_036424.2",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1136,
"cds_start": 416,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": "ENST00000313093.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Pro",
"transcript": "ENST00000313093.7",
"protein_id": "ENSP00000316772.2",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 1136,
"cds_start": 416,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": "NM_012292.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"transcript": "ENST00000586866.5",
"protein_id": "ENSP00000468615.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 1140,
"cds_start": 428,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.497G>C",
"hgvs_p": "p.Arg166Pro",
"transcript": "ENST00000590214.5",
"protein_id": "ENSP00000466401.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 1163,
"cds_start": 497,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Pro",
"transcript": "NM_001258328.4",
"protein_id": "NP_001245257.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1152,
"cds_start": 464,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Pro",
"transcript": "ENST00000539243.6",
"protein_id": "ENSP00000439601.1",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 1152,
"cds_start": 464,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 4184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"transcript": "NM_001321232.2",
"protein_id": "NP_001308161.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1140,
"cds_start": 428,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000587186.5",
"protein_id": "ENSP00000467741.1",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 169,
"cds_start": 431,
"cds_end": null,
"cds_length": 511,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.464G>C",
"hgvs_p": "p.Arg155Pro",
"transcript": "XM_047438545.1",
"protein_id": "XP_047294501.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1180,
"cds_start": 464,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"transcript": "XM_011527858.1",
"protein_id": "XP_011526160.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1168,
"cds_start": 428,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Pro",
"transcript": "XM_047438546.1",
"protein_id": "XP_047294502.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1164,
"cds_start": 416,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"transcript": "XM_047438547.1",
"protein_id": "XP_047294503.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1140,
"cds_start": 428,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Pro",
"transcript": "XM_047438548.1",
"protein_id": "XP_047294504.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 1136,
"cds_start": 416,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 5067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "n.90+1244G>C",
"hgvs_p": null,
"transcript": "ENST00000587602.5",
"protein_id": "ENSP00000466365.1",
"transcript_support_level": 2,
"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": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"hgvs_c": "n.177+1244G>C",
"hgvs_p": null,
"transcript": "ENST00000591293.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGAP45",
"gene_hgnc_id": 17102,
"dbsnp": "rs1801284",
"frequency_reference_population": 0.0000013708188,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137082,
"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": 0.03877294063568115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.2331,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.387,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000313093.7",
"gene_symbol": "ARHGAP45",
"hgnc_id": 17102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.416G>C",
"hgvs_p": "p.Arg139Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}