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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: 17-38466345-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=38466345&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 38466345,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001199417.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "NM_001199417.2",
"protein_id": "NP_001186346.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1491,
"cds_start": 662,
"cds_end": null,
"cds_length": 4476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000622683.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199417.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "ENST00000622683.5",
"protein_id": "ENSP00000481862.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 1491,
"cds_start": 662,
"cds_end": null,
"cds_length": 4476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199417.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622683.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Ser335Asn",
"transcript": "ENST00000616767.2",
"protein_id": "ENSP00000516485.1",
"transcript_support_level": 3,
"aa_start": 335,
"aa_end": null,
"aa_length": 1605,
"cds_start": 1004,
"cds_end": null,
"cds_length": 4818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616767.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Ser203Asn",
"transcript": "ENST00000633445.2",
"protein_id": "ENSP00000516484.1",
"transcript_support_level": 3,
"aa_start": 203,
"aa_end": null,
"aa_length": 1473,
"cds_start": 608,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633445.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "ENST00000620417.4",
"protein_id": "ENSP00000482992.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 1144,
"cds_start": 662,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620417.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.617G>A",
"hgvs_p": "p.Ser206Asn",
"transcript": "XM_011525073.2",
"protein_id": "XP_011523375.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 1476,
"cds_start": 617,
"cds_end": null,
"cds_length": 4431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525073.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Ser203Asn",
"transcript": "XM_006721991.2",
"protein_id": "XP_006722054.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1473,
"cds_start": 608,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721991.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "XM_006721992.4",
"protein_id": "XP_006722055.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1408,
"cds_start": 662,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721992.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Ser127Asn",
"transcript": "XM_011525074.3",
"protein_id": "XP_011523376.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 1397,
"cds_start": 380,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525074.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.44G>A",
"hgvs_p": "p.Ser15Asn",
"transcript": "XM_011525075.3",
"protein_id": "XP_011523377.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 1285,
"cds_start": 44,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525075.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "XM_006721993.4",
"protein_id": "XP_006722056.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1249,
"cds_start": 662,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721993.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "XM_011525076.3",
"protein_id": "XP_011523378.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1159,
"cds_start": 662,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525076.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "XM_011525077.3",
"protein_id": "XP_011523379.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1117,
"cds_start": 662,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525077.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn",
"transcript": "XM_047436477.1",
"protein_id": "XP_047292433.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1076,
"cds_start": 662,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "n.684G>A",
"hgvs_p": null,
"transcript": "XR_429909.4",
"protein_id": null,
"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": "pseudogene",
"feature": "XR_429909.4"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276170",
"gene_hgnc_id": null,
"hgvs_c": "n.364+3211C>T",
"hgvs_p": null,
"transcript": "ENST00000811636.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000811636.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000276170",
"gene_hgnc_id": null,
"hgvs_c": "n.543+3211C>T",
"hgvs_p": null,
"transcript": "ENST00000811637.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000811637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"hgvs_c": "c.*73G>A",
"hgvs_p": null,
"transcript": "ENST00000618942.1",
"protein_id": "ENSP00000482982.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618942.1"
}
],
"gene_symbol": "ARHGAP23",
"gene_hgnc_id": 29293,
"dbsnp": "rs1268448495",
"frequency_reference_population": 0.0000019448014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000143835,
"gnomad_genomes_af": 0.00000657514,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11760503053665161,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.1412,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.7,
"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": 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_001199417.2",
"gene_symbol": "ARHGAP23",
"hgnc_id": 29293,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Ser221Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000811636.1",
"gene_symbol": "ENSG00000276170",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.364+3211C>T",
"hgvs_p": null
}
],
"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
}