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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: 11-128973957-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128973957&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "ARHGAP32",
"hgnc_id": 17399,
"hgvs_c": "c.*135C>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000524655.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 479069,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 954,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8194,
"cdna_start": null,
"cds_end": null,
"cds_length": 2865,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000524655.6",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.*135C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432468.2",
"strand": false,
"transcript": "ENST00000524655.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10280,
"cdna_start": null,
"cds_end": null,
"cds_length": 6306,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378024.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.3073+167C>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682385.1",
"protein_coding": true,
"protein_id": "NP_001364953.1",
"strand": false,
"transcript": "NM_001378024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10280,
"cdna_start": null,
"cds_end": null,
"cds_length": 6306,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682385.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.3073+167C>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378024.1",
"protein_coding": true,
"protein_id": "ENSP00000507720.1",
"strand": false,
"transcript": "ENST00000682385.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2087,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10111,
"cdna_start": null,
"cds_end": null,
"cds_length": 6264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000310343.13",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.3031+167C>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000310561.8",
"strand": false,
"transcript": "ENST00000310343.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1738,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6556,
"cdna_start": null,
"cds_end": null,
"cds_length": 5217,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392657.7",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.1984+167C>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376425.3",
"strand": false,
"transcript": "ENST00000392657.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1738,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5289,
"cdna_start": null,
"cds_end": null,
"cds_length": 5217,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527272.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.1984+167C>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432862.1",
"strand": false,
"transcript": "ENST00000527272.1",
"transcript_support_level": 1
},
{
"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": 6868,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000526162.5",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "n.2129C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000526162.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2087,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10238,
"cdna_start": null,
"cds_end": null,
"cds_length": 6264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142685.2",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.3031+167C>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136157.1",
"strand": false,
"transcript": "NM_001142685.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2047,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10091,
"cdna_start": null,
"cds_end": null,
"cds_length": 6144,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378025.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2911+167C>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364954.1",
"strand": false,
"transcript": "NM_001378025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1738,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9438,
"cdna_start": null,
"cds_end": null,
"cds_length": 5217,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014715.4",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.1984+167C>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055530.2",
"strand": false,
"transcript": "NM_014715.4",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 2074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10076,
"cdna_start": null,
"cds_end": null,
"cds_length": 6225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543073.3",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2992+167C>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541375.2",
"strand": false,
"transcript": "XM_011543073.3",
"transcript_support_level": null
},
{
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"aa_length": 2069,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10091,
"cdna_start": null,
"cds_end": null,
"cds_length": 6210,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427928.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2977+167C>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283884.1",
"strand": false,
"transcript": "XM_047427928.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10344,
"cdna_start": null,
"cds_end": null,
"cds_length": 6186,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
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"feature": "XM_011543072.3",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2953+167C>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541374.1",
"strand": false,
"transcript": "XM_011543072.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10062,
"cdna_start": null,
"cds_end": null,
"cds_length": 6186,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017018595.3",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2953+167C>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874084.1",
"strand": false,
"transcript": "XM_017018595.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
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"feature": "XM_047427926.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2953+167C>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283882.1",
"strand": false,
"transcript": "XM_047427926.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10179,
"cdna_start": null,
"cds_end": null,
"cds_length": 6186,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427927.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2953+167C>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283883.1",
"strand": false,
"transcript": "XM_047427927.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10137,
"cdna_start": null,
"cds_end": null,
"cds_length": 6144,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427929.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2911+167C>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283885.1",
"strand": false,
"transcript": "XM_047427929.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "XM_047427930.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2911+167C>A",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047283886.1",
"strand": false,
"transcript": "XM_047427930.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10101,
"cdna_start": null,
"cds_end": null,
"cds_length": 6027,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017018596.2",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2794+167C>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874085.1",
"strand": false,
"transcript": "XM_017018596.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9224,
"cdna_start": null,
"cds_end": null,
"cds_length": 5289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543075.3",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.2056+167C>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541377.1",
"strand": false,
"transcript": "XM_011543075.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3796668",
"effect": "3_prime_UTR_variant",
"frequency_reference_population": 0.6278212,
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"gnomad_exomes_ac": 385888,
"gnomad_exomes_af": 0.631376,
"gnomad_exomes_homalt": 123336,
"gnomad_genomes_ac": 93181,
"gnomad_genomes_af": 0.613517,
"gnomad_genomes_homalt": 28802,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 152138,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.627,
"pos": 128973957,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
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