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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: 11-72702914-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72702914&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARAP1",
"hgnc_id": 16925,
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001040118.3",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARAP1-AS2",
"hgnc_id": 39994,
"hgvs_c": "n.81-950G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000500163.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": 0.1088,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"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": 0.1627349555492401,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5156,
"cdna_start": 2366,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001040118.3",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393609.8",
"protein_coding": true,
"protein_id": "NP_001035207.1",
"strand": false,
"transcript": "NM_001040118.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5156,
"cdna_start": 2366,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000393609.8",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040118.3",
"protein_coding": true,
"protein_id": "ENSP00000377233.3",
"strand": false,
"transcript": "ENST00000393609.8",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "R",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000393605.7",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Arg480Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377230.3",
"strand": false,
"transcript": "ENST00000393605.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "R",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4942,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 3618,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000334211.12",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335506.8",
"strand": false,
"transcript": "ENST00000334211.12",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1194,
"aa_ref": "R",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 3585,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000426523.5",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392264.1",
"strand": false,
"transcript": "ENST00000426523.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 3402,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000429686.5",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Arg414Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403127.1",
"strand": false,
"transcript": "ENST00000429686.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5058,
"cdna_start": 2273,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852596.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522655.1",
"strand": false,
"transcript": "ENST00000852596.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5149,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852598.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522657.1",
"strand": false,
"transcript": "ENST00000852598.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "R",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5133,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 4335,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000932332.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.2140C>T",
"hgvs_p": "p.Arg714Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602391.1",
"strand": false,
"transcript": "ENST00000932332.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1439,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5767,
"cdna_start": 3010,
"cds_end": null,
"cds_length": 4320,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000359373.9",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352332.5",
"strand": false,
"transcript": "ENST00000359373.9",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4942,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 4239,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000932333.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602392.1",
"strand": false,
"transcript": "ENST00000932333.1",
"transcript_support_level": null
},
{
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"aa_length": 1401,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5006,
"cdna_start": 2365,
"cds_end": null,
"cds_length": 4206,
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"consequences": [
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],
"exon_count": 33,
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"feature": "ENST00000932331.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000602390.1",
"strand": false,
"transcript": "ENST00000932331.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 2228,
"cds_end": null,
"cds_length": 4170,
"cds_start": 1975,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852595.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1975C>T",
"hgvs_p": "p.Arg659Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522654.1",
"strand": false,
"transcript": "ENST00000852595.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6790,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 4170,
"cds_start": 1975,
"consequences": [
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],
"exon_count": 33,
"exon_rank": 13,
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"feature": "ENST00000932329.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1975C>T",
"hgvs_p": "p.Arg659Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602388.1",
"strand": false,
"transcript": "ENST00000932329.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4944,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 4170,
"cds_start": 1975,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952695.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1975C>T",
"hgvs_p": "p.Arg659Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622754.1",
"strand": false,
"transcript": "ENST00000952695.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 1376,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4882,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 4131,
"cds_start": 1975,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000932330.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1975C>T",
"hgvs_p": "p.Arg659Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602389.1",
"strand": false,
"transcript": "ENST00000932330.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 4077,
"cds_start": 1915,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000852597.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1915C>T",
"hgvs_p": "p.Arg639Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522656.1",
"strand": false,
"transcript": "ENST00000852597.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4930,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 3618,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_015242.5",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056057.2",
"strand": false,
"transcript": "NM_015242.5",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4897,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 3585,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001369489.1",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356418.1",
"strand": false,
"transcript": "NM_001369489.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 3402,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001135190.2",
"gene_hgnc_id": 16925,
"gene_symbol": "ARAP1",
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Arg414Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128662.1",
"strand": false,
"transcript": "NM_001135190.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 8,
"biotype": "protein_coding",
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}