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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: 2-130931121-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=130931121&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGEF4",
"hgnc_id": 684,
"hgvs_c": "c.3722C>G",
"hgvs_p": "p.Pro1241Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001367493.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0739,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14698266983032227,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1876,
"aa_ref": "P",
"aa_start": 1241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6735,
"cdna_start": 3762,
"cds_end": null,
"cds_length": 5631,
"cds_start": 3722,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001367493.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.3722C>G",
"hgvs_p": "p.Pro1241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409359.7",
"protein_coding": true,
"protein_id": "NP_001354422.1",
"strand": true,
"transcript": "NM_001367493.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1876,
"aa_ref": "P",
"aa_start": 1241,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6735,
"cdna_start": 3762,
"cds_end": null,
"cds_length": 5631,
"cds_start": 3722,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409359.7",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.3722C>G",
"hgvs_p": "p.Pro1241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367493.1",
"protein_coding": true,
"protein_id": "ENSP00000386794.3",
"strand": true,
"transcript": "ENST00000409359.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 694,
"aa_ref": "P",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3800,
"cdna_start": 238,
"cds_end": null,
"cds_length": 2085,
"cds_start": 236,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392953.8",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.236C>G",
"hgvs_p": "p.Pro79Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376680.5",
"strand": true,
"transcript": "ENST00000392953.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1865,
"aa_ref": "P",
"aa_start": 1241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6699,
"cdna_start": 3761,
"cds_end": null,
"cds_length": 5598,
"cds_start": 3722,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918336.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.3722C>G",
"hgvs_p": "p.Pro1241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588395.1",
"strand": true,
"transcript": "ENST00000918336.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1827,
"aa_ref": "P",
"aa_start": 1241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6587,
"cdna_start": 3761,
"cds_end": null,
"cds_length": 5484,
"cds_start": 3722,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918335.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.3722C>G",
"hgvs_p": "p.Pro1241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588394.1",
"strand": true,
"transcript": "ENST00000918335.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1576,
"aa_ref": "P",
"aa_start": 1241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5813,
"cdna_start": 3740,
"cds_end": null,
"cds_length": 4731,
"cds_start": 3722,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918338.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.3722C>G",
"hgvs_p": "p.Pro1241Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588397.1",
"strand": true,
"transcript": "ENST00000918338.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 705,
"aa_ref": "P",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 249,
"cds_end": null,
"cds_length": 2118,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001375900.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.209C>G",
"hgvs_p": "p.Pro70Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362829.1",
"strand": true,
"transcript": "NM_001375900.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6400,
"cdna_start": 3427,
"cds_end": null,
"cds_length": 2073,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015320.4",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.164C>G",
"hgvs_p": "p.Pro55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056135.2",
"strand": true,
"transcript": "NM_015320.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 690,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 683,
"cds_end": null,
"cds_length": 2073,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000326016.10",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.164C>G",
"hgvs_p": "p.Pro55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000316845.5",
"strand": true,
"transcript": "ENST00000326016.10",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 656,
"aa_ref": "P",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 239,
"cds_end": null,
"cds_length": 1971,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918337.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.209C>G",
"hgvs_p": "p.Pro70Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588396.1",
"strand": true,
"transcript": "ENST00000918337.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 653,
"aa_ref": "P",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 274,
"cds_end": null,
"cds_length": 1962,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001375901.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.53C>G",
"hgvs_p": "p.Pro18Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362830.1",
"strand": true,
"transcript": "NM_001375901.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 630,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1893,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000611048.4",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.164C>G",
"hgvs_p": "p.Pro55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483548.1",
"strand": true,
"transcript": "ENST00000611048.4",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1119,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000438985.5",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.704C>G",
"hgvs_p": "p.Pro235Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389661.1",
"strand": true,
"transcript": "ENST00000438985.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 192,
"aa_ref": "P",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 683,
"cds_end": null,
"cds_length": 579,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000428230.6",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "c.164C>G",
"hgvs_p": "p.Pro55Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398455.2",
"strand": true,
"transcript": "ENST00000428230.6",
"transcript_support_level": 5
},
{
"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": 4788,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526381.2",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "n.3930C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000526381.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636987.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "n.*255C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490717.1",
"strand": true,
"transcript": "ENST00000636987.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636987.1",
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"hgvs_c": "n.*255C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490717.1",
"strand": true,
"transcript": "ENST00000636987.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1383049756",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013681388,
"gene_hgnc_id": 684,
"gene_symbol": "ARHGEF4",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136814,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": 0.833,
"pos": 130931121,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.091,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001367493.1"
}
]
}