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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: 1-155952148-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155952148&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155952148,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001162383.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Ser691Ile",
"transcript": "NM_001162383.2",
"protein_id": "NP_001155855.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 986,
"cds_start": 2072,
"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": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Ser691Ile",
"transcript": "ENST00000361247.9",
"protein_id": "ENSP00000354837.4",
"transcript_support_level": 1,
"aa_start": 691,
"aa_end": null,
"aa_length": 986,
"cds_start": 2072,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2069G>T",
"hgvs_p": "p.Ser690Ile",
"transcript": "ENST00000313667.8",
"protein_id": "ENSP00000314787.4",
"transcript_support_level": 1,
"aa_start": 690,
"aa_end": null,
"aa_length": 985,
"cds_start": 2069,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1988G>T",
"hgvs_p": "p.Ser663Ile",
"transcript": "ENST00000313695.11",
"protein_id": "ENSP00000315325.7",
"transcript_support_level": 1,
"aa_start": 663,
"aa_end": null,
"aa_length": 958,
"cds_start": 1988,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2501G>T",
"hgvs_p": "p.Ser834Ile",
"transcript": "ENST00000673475.1",
"protein_id": "ENSP00000500802.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2501,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2207G>T",
"hgvs_p": "p.Ser736Ile",
"transcript": "ENST00000462460.6",
"protein_id": "ENSP00000476916.1",
"transcript_support_level": 5,
"aa_start": 736,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2207,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2075G>T",
"hgvs_p": "p.Ser692Ile",
"transcript": "ENST00000696601.1",
"protein_id": "ENSP00000512746.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 987,
"cds_start": 2075,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2069G>T",
"hgvs_p": "p.Ser690Ile",
"transcript": "NM_001162384.2",
"protein_id": "NP_001155856.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 985,
"cds_start": 2069,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2066G>T",
"hgvs_p": "p.Ser689Ile",
"transcript": "ENST00000873828.1",
"protein_id": "ENSP00000543887.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 984,
"cds_start": 2066,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2066G>T",
"hgvs_p": "p.Ser689Ile",
"transcript": "ENST00000873829.1",
"protein_id": "ENSP00000543888.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 984,
"cds_start": 2066,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.2018G>T",
"hgvs_p": "p.Ser673Ile",
"transcript": "NM_001350112.2",
"protein_id": "NP_001337041.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 978,
"cds_start": 2018,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1991G>T",
"hgvs_p": "p.Ser664Ile",
"transcript": "NM_001350110.2",
"protein_id": "NP_001337039.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 969,
"cds_start": 1991,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1991G>T",
"hgvs_p": "p.Ser664Ile",
"transcript": "NM_001350111.2",
"protein_id": "NP_001337040.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 969,
"cds_start": 1991,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1988G>T",
"hgvs_p": "p.Ser663Ile",
"transcript": "NM_004723.4",
"protein_id": "NP_004714.2",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 958,
"cds_start": 1988,
"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": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "c.1823G>T",
"hgvs_p": "p.Ser608Ile",
"transcript": "ENST00000927873.1",
"protein_id": "ENSP00000597932.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 903,
"cds_start": 1823,
"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": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.*1734G>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": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"hgvs_c": "n.*1734G>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.658-5068G>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"
}
],
"gene_symbol": "ARHGEF2",
"gene_hgnc_id": 682,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17804622650146484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.0913,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.106,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001162383.2",
"gene_symbol": "ARHGEF2",
"hgnc_id": 682,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Ser691Ile"
}
],
"clinvar_disease": "Myoepithelial tumor",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myoepithelial tumor",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}