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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: 11-128969305-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128969305&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGAP32",
"hgnc_id": 17399,
"hgvs_c": "c.5908C>T",
"hgvs_p": "p.Pro1970Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001378024.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0813,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.031053513288497925,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2101,
"aa_ref": "P",
"aa_start": 1970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10280,
"cdna_start": 6035,
"cds_end": null,
"cds_length": 6306,
"cds_start": 5908,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001378024.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5908C>T",
"hgvs_p": "p.Pro1970Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2101,
"aa_ref": "P",
"aa_start": 1970,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10280,
"cdna_start": 6035,
"cds_end": null,
"cds_length": 6306,
"cds_start": 5908,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000682385.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5908C>T",
"hgvs_p": "p.Pro1970Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2087,
"aa_ref": "P",
"aa_start": 1956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10111,
"cdna_start": 5866,
"cds_end": null,
"cds_length": 6264,
"cds_start": 5866,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000310343.13",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5866C>T",
"hgvs_p": "p.Pro1956Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "P",
"aa_start": 1607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6556,
"cdna_start": 5198,
"cds_end": null,
"cds_length": 5217,
"cds_start": 4819,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000392657.7",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.4819C>T",
"hgvs_p": "p.Pro1607Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "P",
"aa_start": 1607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5289,
"cdna_start": 4853,
"cds_end": null,
"cds_length": 5217,
"cds_start": 4819,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000527272.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.4819C>T",
"hgvs_p": "p.Pro1607Ser",
"intron_rank": null,
"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": 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.*4787C>T",
"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": 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": 11,
"exon_rank_end": null,
"feature": "ENST00000526162.5",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "n.5488C>T",
"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": "S",
"aa_end": null,
"aa_length": 2087,
"aa_ref": "P",
"aa_start": 1956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10238,
"cdna_start": 5993,
"cds_end": null,
"cds_length": 6264,
"cds_start": 5866,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001142685.2",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5866C>T",
"hgvs_p": "p.Pro1956Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2047,
"aa_ref": "P",
"aa_start": 1916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10091,
"cdna_start": 5846,
"cds_end": null,
"cds_length": 6144,
"cds_start": 5746,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001378025.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5746C>T",
"hgvs_p": "p.Pro1916Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 1738,
"aa_ref": "P",
"aa_start": 1607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9438,
"cdna_start": 5193,
"cds_end": null,
"cds_length": 5217,
"cds_start": 4819,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_014715.4",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.4819C>T",
"hgvs_p": "p.Pro1607Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2074,
"aa_ref": "P",
"aa_start": 1943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10076,
"cdna_start": 5831,
"cds_end": null,
"cds_length": 6225,
"cds_start": 5827,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011543073.3",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5827C>T",
"hgvs_p": "p.Pro1943Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2069,
"aa_ref": "P",
"aa_start": 1938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10091,
"cdna_start": 5846,
"cds_end": null,
"cds_length": 6210,
"cds_start": 5812,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047427928.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5812C>T",
"hgvs_p": "p.Pro1938Ser",
"intron_rank": null,
"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_length": 2061,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10344,
"cdna_start": 6099,
"cds_end": null,
"cds_length": 6186,
"cds_start": 5788,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_011543072.3",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5788C>T",
"hgvs_p": "p.Pro1930Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2061,
"aa_ref": "P",
"aa_start": 1930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10062,
"cdna_start": 5817,
"cds_end": null,
"cds_length": 6186,
"cds_start": 5788,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017018595.3",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5788C>T",
"hgvs_p": "p.Pro1930Ser",
"intron_rank": null,
"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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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10133,
"cdna_start": 5888,
"cds_end": null,
"cds_length": 6186,
"cds_start": 5788,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047427926.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5788C>T",
"hgvs_p": "p.Pro1930Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
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"aa_length": 2061,
"aa_ref": "P",
"aa_start": 1930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10179,
"cdna_start": 5934,
"cds_end": null,
"cds_length": 6186,
"cds_start": 5788,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047427927.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5788C>T",
"hgvs_p": "p.Pro1930Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
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"aa_length": 2047,
"aa_ref": "P",
"aa_start": 1916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10137,
"cdna_start": 5892,
"cds_end": null,
"cds_length": 6144,
"cds_start": 5746,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047427929.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5746C>T",
"hgvs_p": "p.Pro1916Ser",
"intron_rank": null,
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"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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"aa_ref": "P",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047427930.1",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5746C>T",
"hgvs_p": "p.Pro1916Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283886.1",
"strand": false,
"transcript": "XM_047427930.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2008,
"aa_ref": "P",
"aa_start": 1877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10101,
"cdna_start": 5856,
"cds_end": null,
"cds_length": 6027,
"cds_start": 5629,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_017018596.2",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.5629C>T",
"hgvs_p": "p.Pro1877Ser",
"intron_rank": null,
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1762,
"aa_ref": "P",
"aa_start": 1631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9224,
"cdna_start": 4979,
"cds_end": null,
"cds_length": 5289,
"cds_start": 4891,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011543075.3",
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"hgvs_c": "c.4891C>T",
"hgvs_p": "p.Pro1631Ser",
"intron_rank": null,
"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": "rs1401271025",
"effect": "missense_variant",
"frequency_reference_population": 0.0000020521493,
"gene_hgnc_id": 17399,
"gene_symbol": "ARHGAP32",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.403,
"pos": 128969305,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.066,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001378024.1"
}
]
}