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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: 1-155952688-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155952688&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155952688,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001162383.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1924C>T",
"hgvs_p": "p.Arg642Cys",
"transcript": "NM_001162383.2",
"protein_id": "NP_001155855.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 986,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361247.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162383.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1924C>T",
"hgvs_p": "p.Arg642Cys",
"transcript": "ENST00000361247.9",
"protein_id": "ENSP00000354837.4",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 986,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001162383.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361247.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"transcript": "ENST00000313667.8",
"protein_id": "ENSP00000314787.4",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 985,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313667.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1840C>T",
"hgvs_p": "p.Arg614Cys",
"transcript": "ENST00000313695.11",
"protein_id": "ENSP00000315325.7",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 958,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313695.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Arg785Cys",
"transcript": "ENST00000673475.1",
"protein_id": "ENSP00000500802.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2353,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673475.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2059C>T",
"hgvs_p": "p.Arg687Cys",
"transcript": "ENST00000462460.6",
"protein_id": "ENSP00000476916.1",
"transcript_support_level": 5,
"aa_start": 687,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2059,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462460.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1927C>T",
"hgvs_p": "p.Arg643Cys",
"transcript": "ENST00000696601.1",
"protein_id": "ENSP00000512746.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 987,
"cds_start": 1927,
"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": "ENST00000696601.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Arg641Cys",
"transcript": "NM_001162384.2",
"protein_id": "NP_001155856.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 985,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162384.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1918C>T",
"hgvs_p": "p.Arg640Cys",
"transcript": "ENST00000873828.1",
"protein_id": "ENSP00000543887.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 984,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873828.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1918C>T",
"hgvs_p": "p.Arg640Cys",
"transcript": "ENST00000873829.1",
"protein_id": "ENSP00000543888.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 984,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873829.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1870C>T",
"hgvs_p": "p.Arg624Cys",
"transcript": "NM_001350112.2",
"protein_id": "NP_001337041.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 978,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350112.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1843C>T",
"hgvs_p": "p.Arg615Cys",
"transcript": "NM_001350110.2",
"protein_id": "NP_001337039.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 969,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350110.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1843C>T",
"hgvs_p": "p.Arg615Cys",
"transcript": "NM_001350111.2",
"protein_id": "NP_001337040.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 969,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350111.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1840C>T",
"hgvs_p": "p.Arg614Cys",
"transcript": "NM_004723.4",
"protein_id": "NP_004714.2",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 958,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004723.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Cys",
"transcript": "ENST00000927873.1",
"protein_id": "ENSP00000597932.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 903,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.*1586C>T",
"hgvs_p": null,
"transcript": "ENST00000696600.1",
"protein_id": "ENSP00000512745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.*1586C>T",
"hgvs_p": null,
"transcript": "ENST00000696600.1",
"protein_id": "ENSP00000512745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.658-5608C>T",
"hgvs_p": null,
"transcript": "ENST00000477754.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477754.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.*115C>T",
"hgvs_p": null,
"transcript": "ENST00000470975.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470975.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.*44C>T",
"hgvs_p": null,
"transcript": "ENST00000474428.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474428.6"
}
],
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"dbsnp": "rs765148044",
"frequency_reference_population": 0.000018586163,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000171013,
"gnomad_genomes_af": 0.0000328459,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8297391533851624,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.593,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.686,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001162383.2",
"gene_symbol": "ARHGEF2",
"hgnc_id": 682,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1924C>T",
"hgvs_p": "p.Arg642Cys"
}
],
"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
}