← 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: 11-46679215-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46679215&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGAP1",
"hgnc_id": 673,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_004308.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 412,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0897,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0996185839176178,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "H",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_004308.5",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311956.9",
"protein_coding": true,
"protein_id": "NP_004299.1",
"strand": false,
"transcript": "NM_004308.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "H",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000311956.9",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004308.5",
"protein_coding": true,
"protein_id": "ENSP00000310491.4",
"strand": false,
"transcript": "ENST00000311956.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000526423.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "n.885A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000526423.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 494,
"aa_ref": "H",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000873835.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1307A>G",
"hgvs_p": "p.His436Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543894.1",
"strand": false,
"transcript": "ENST00000873835.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 487,
"aa_ref": "H",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000917231.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1286A>G",
"hgvs_p": "p.His429Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587290.1",
"strand": false,
"transcript": "ENST00000917231.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 455,
"aa_ref": "H",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970419.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1190A>G",
"hgvs_p": "p.His397Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640478.1",
"strand": false,
"transcript": "ENST00000970419.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 449,
"aa_ref": "H",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1172,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000873834.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.His391Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543893.1",
"strand": false,
"transcript": "ENST00000873834.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "H",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000873837.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543896.1",
"strand": false,
"transcript": "ENST00000873837.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "H",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000873838.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543897.1",
"strand": false,
"transcript": "ENST00000873838.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "H",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000873840.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543899.1",
"strand": false,
"transcript": "ENST00000873840.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "H",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000917227.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587286.1",
"strand": false,
"transcript": "ENST00000917227.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "H",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970420.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640479.1",
"strand": false,
"transcript": "ENST00000970420.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 413,
"aa_ref": "H",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1064,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000873836.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1064A>G",
"hgvs_p": "p.His355Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543895.1",
"strand": false,
"transcript": "ENST00000873836.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2459,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1013,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000873839.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.His338Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543898.1",
"strand": false,
"transcript": "ENST00000873839.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 370,
"aa_ref": "H",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1113,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000917228.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.935A>G",
"hgvs_p": "p.His312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587287.1",
"strand": false,
"transcript": "ENST00000917228.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 369,
"aa_ref": "H",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 1110,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000917229.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.932A>G",
"hgvs_p": "p.His311Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587288.1",
"strand": false,
"transcript": "ENST00000917229.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 326,
"aa_ref": "H",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 910,
"cds_end": null,
"cds_length": 981,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917230.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.803A>G",
"hgvs_p": "p.His268Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587289.1",
"strand": false,
"transcript": "ENST00000917230.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 439,
"aa_ref": "H",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3354,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047426933.1",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282889.1",
"strand": false,
"transcript": "XM_047426933.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 395,
"aa_ref": "H",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1010,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_024448520.2",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.1010A>G",
"hgvs_p": "p.His337Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304288.1",
"strand": false,
"transcript": "XM_024448520.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 332,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": null,
"cds_end": null,
"cds_length": 999,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528837.5",
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"hgvs_c": "c.*2A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434883.1",
"strand": true,
"transcript": "ENST00000528837.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200846104",
"effect": "missense_variant",
"frequency_reference_population": 0.00025729867,
"gene_hgnc_id": 673,
"gene_symbol": "ARHGAP1",
"gnomad_exomes_ac": 388,
"gnomad_exomes_af": 0.000267762,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 24,
"gnomad_genomes_af": 0.000157683,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.075,
"pos": 46679215,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.141,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004308.5"
}
]
}