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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: 2-68819184-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=68819184&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ARHGAP25",
"hgnc_id": 28951,
"hgvs_c": "c.1065C>A",
"hgvs_p": "p.Pro355Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001007231.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11599999666213989,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 646,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1065,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001007231.3",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.1065C>A",
"hgvs_p": "p.Pro355Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409202.8",
"protein_coding": true,
"protein_id": "NP_001007232.2",
"strand": true,
"transcript": "NM_001007231.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 646,
"aa_ref": "P",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1065,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000409202.8",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.1065C>A",
"hgvs_p": "p.Pro355Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001007231.3",
"protein_coding": true,
"protein_id": "ENSP00000386911.3",
"strand": true,
"transcript": "ENST00000409202.8",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 639,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409220.5",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.1044C>A",
"hgvs_p": "p.Pro348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386241.1",
"strand": true,
"transcript": "ENST00000409220.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 638,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000409030.7",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.1041C>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386863.3",
"strand": true,
"transcript": "ENST00000409030.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 458,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000497079.5",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.1044C>A",
"hgvs_p": "p.Pro348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417139.1",
"strand": true,
"transcript": "ENST00000497079.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 645,
"aa_ref": "P",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1062,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001364819.1",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.1062C>A",
"hgvs_p": "p.Pro354Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351748.1",
"strand": true,
"transcript": "NM_001364819.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 639,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1044,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001166276.2",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.1044C>A",
"hgvs_p": "p.Pro348Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159748.1",
"strand": true,
"transcript": "NM_001166276.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 638,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_014882.3",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.1041C>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055697.1",
"strand": true,
"transcript": "NM_014882.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 620,
"aa_ref": "P",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1863,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001364821.1",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.987C>A",
"hgvs_p": "p.Pro329Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351750.1",
"strand": true,
"transcript": "NM_001364821.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 607,
"aa_ref": "P",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1824,
"cds_start": 948,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001364820.1",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.948C>A",
"hgvs_p": "p.Pro316Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351749.1",
"strand": true,
"transcript": "NM_001364820.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 606,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1821,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001166277.2",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.945C>A",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159749.1",
"strand": true,
"transcript": "NM_001166277.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 606,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1821,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000467265.5",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.945C>A",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420583.1",
"strand": true,
"transcript": "ENST00000467265.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1515,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000497259.5",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.639C>A",
"hgvs_p": "p.Pro213Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417818.1",
"strand": true,
"transcript": "ENST00000497259.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1020,
"cds_start": 144,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000479844.1",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.144C>A",
"hgvs_p": "p.Pro48Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417467.1",
"strand": true,
"transcript": "ENST00000479844.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 620,
"aa_ref": "P",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1863,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011533207.4",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.987C>A",
"hgvs_p": "p.Pro329Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531509.1",
"strand": true,
"transcript": "XM_011533207.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 528,
"aa_ref": "P",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5614,
"cdna_start": 4099,
"cds_end": null,
"cds_length": 1587,
"cds_start": 711,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011533209.3",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.711C>A",
"hgvs_p": "p.Pro237Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531511.1",
"strand": true,
"transcript": "XM_011533209.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1119,
"cds_start": 243,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011533210.4",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.243C>A",
"hgvs_p": "p.Pro81Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531512.1",
"strand": true,
"transcript": "XM_011533210.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1119,
"cds_start": 243,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017005426.2",
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"hgvs_c": "c.243C>A",
"hgvs_p": "p.Pro81Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860915.1",
"strand": true,
"transcript": "XM_017005426.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs147150060",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000012439018,
"gene_hgnc_id": 28951,
"gene_symbol": "ARHGAP25",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.86947e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657341,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.074,
"pos": 68819184,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.116,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001007231.3"
}
]
}