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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: 11-128969041-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128969041&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 128969041,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001378024.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6172G>A",
"hgvs_p": "p.Gly2058Ser",
"transcript": "NM_001378024.1",
"protein_id": "NP_001364953.1",
"transcript_support_level": null,
"aa_start": 2058,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6172,
"cds_end": null,
"cds_length": 6306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682385.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378024.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6172G>A",
"hgvs_p": "p.Gly2058Ser",
"transcript": "ENST00000682385.1",
"protein_id": "ENSP00000507720.1",
"transcript_support_level": null,
"aa_start": 2058,
"aa_end": null,
"aa_length": 2101,
"cds_start": 6172,
"cds_end": null,
"cds_length": 6306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378024.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682385.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6130G>A",
"hgvs_p": "p.Gly2044Ser",
"transcript": "ENST00000310343.13",
"protein_id": "ENSP00000310561.8",
"transcript_support_level": 1,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2087,
"cds_start": 6130,
"cds_end": null,
"cds_length": 6264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310343.13"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.5083G>A",
"hgvs_p": "p.Gly1695Ser",
"transcript": "ENST00000392657.7",
"protein_id": "ENSP00000376425.3",
"transcript_support_level": 1,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1738,
"cds_start": 5083,
"cds_end": null,
"cds_length": 5217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392657.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.5083G>A",
"hgvs_p": "p.Gly1695Ser",
"transcript": "ENST00000527272.1",
"protein_id": "ENSP00000432862.1",
"transcript_support_level": 1,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1738,
"cds_start": 5083,
"cds_end": null,
"cds_length": 5217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.*5051G>A",
"hgvs_p": null,
"transcript": "ENST00000524655.6",
"protein_id": "ENSP00000432468.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": null,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524655.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "n.5752G>A",
"hgvs_p": null,
"transcript": "ENST00000526162.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000526162.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6130G>A",
"hgvs_p": "p.Gly2044Ser",
"transcript": "NM_001142685.2",
"protein_id": "NP_001136157.1",
"transcript_support_level": null,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2087,
"cds_start": 6130,
"cds_end": null,
"cds_length": 6264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142685.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6010G>A",
"hgvs_p": "p.Gly2004Ser",
"transcript": "NM_001378025.1",
"protein_id": "NP_001364954.1",
"transcript_support_level": null,
"aa_start": 2004,
"aa_end": null,
"aa_length": 2047,
"cds_start": 6010,
"cds_end": null,
"cds_length": 6144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378025.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.5083G>A",
"hgvs_p": "p.Gly1695Ser",
"transcript": "NM_014715.4",
"protein_id": "NP_055530.2",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 1738,
"cds_start": 5083,
"cds_end": null,
"cds_length": 5217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014715.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6091G>A",
"hgvs_p": "p.Gly2031Ser",
"transcript": "XM_011543073.3",
"protein_id": "XP_011541375.2",
"transcript_support_level": null,
"aa_start": 2031,
"aa_end": null,
"aa_length": 2074,
"cds_start": 6091,
"cds_end": null,
"cds_length": 6225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543073.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6076G>A",
"hgvs_p": "p.Gly2026Ser",
"transcript": "XM_047427928.1",
"protein_id": "XP_047283884.1",
"transcript_support_level": null,
"aa_start": 2026,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6076,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427928.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6052G>A",
"hgvs_p": "p.Gly2018Ser",
"transcript": "XM_011543072.3",
"protein_id": "XP_011541374.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2061,
"cds_start": 6052,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543072.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6052G>A",
"hgvs_p": "p.Gly2018Ser",
"transcript": "XM_017018595.3",
"protein_id": "XP_016874084.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2061,
"cds_start": 6052,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018595.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6052G>A",
"hgvs_p": "p.Gly2018Ser",
"transcript": "XM_047427926.1",
"protein_id": "XP_047283882.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2061,
"cds_start": 6052,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427926.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6052G>A",
"hgvs_p": "p.Gly2018Ser",
"transcript": "XM_047427927.1",
"protein_id": "XP_047283883.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2061,
"cds_start": 6052,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427927.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6010G>A",
"hgvs_p": "p.Gly2004Ser",
"transcript": "XM_047427929.1",
"protein_id": "XP_047283885.1",
"transcript_support_level": null,
"aa_start": 2004,
"aa_end": null,
"aa_length": 2047,
"cds_start": 6010,
"cds_end": null,
"cds_length": 6144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427929.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.6010G>A",
"hgvs_p": "p.Gly2004Ser",
"transcript": "XM_047427930.1",
"protein_id": "XP_047283886.1",
"transcript_support_level": null,
"aa_start": 2004,
"aa_end": null,
"aa_length": 2047,
"cds_start": 6010,
"cds_end": null,
"cds_length": 6144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427930.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.5893G>A",
"hgvs_p": "p.Gly1965Ser",
"transcript": "XM_017018596.2",
"protein_id": "XP_016874085.1",
"transcript_support_level": null,
"aa_start": 1965,
"aa_end": null,
"aa_length": 2008,
"cds_start": 5893,
"cds_end": null,
"cds_length": 6027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018596.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"hgvs_c": "c.5155G>A",
"hgvs_p": "p.Gly1719Ser",
"transcript": "XM_011543075.3",
"protein_id": "XP_011541377.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 1762,
"cds_start": 5155,
"cds_end": null,
"cds_length": 5289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543075.3"
}
],
"gene_symbol": "ARHGAP32",
"gene_hgnc_id": 17399,
"dbsnp": "rs112106627",
"frequency_reference_population": 0.002000315,
"hom_count_reference_population": 8,
"allele_count_reference_population": 3225,
"gnomad_exomes_af": 0.00207471,
"gnomad_genomes_af": 0.00128709,
"gnomad_exomes_ac": 3029,
"gnomad_genomes_ac": 196,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004345148801803589,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0718,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.054,
"phylop100way_prediction": "Benign",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001378024.1",
"gene_symbol": "ARHGAP32",
"hgnc_id": 17399,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6172G>A",
"hgvs_p": "p.Gly2058Ser"
}
],
"clinvar_disease": "ARHGAP32-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ARHGAP32-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}