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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: 20-63282841-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63282841&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARFGAP1",
"hgnc_id": 15852,
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_175609.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.7309,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.33592209219932556,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1221,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_018209.4",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370283.9",
"protein_coding": true,
"protein_id": "NP_060679.1",
"strand": true,
"transcript": "NM_018209.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1221,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000370283.9",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018209.4",
"protein_coding": true,
"protein_id": "ENSP00000359306.4",
"strand": true,
"transcript": "ENST00000370283.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 767,
"cds_end": null,
"cds_length": 1245,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000353546.7",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314615.3",
"strand": true,
"transcript": "ENST00000353546.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 403,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1212,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000370275.8",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359298.4",
"strand": true,
"transcript": "ENST00000370275.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 459,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 818,
"cds_end": null,
"cds_length": 1380,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946863.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616922.1",
"strand": true,
"transcript": "ENST00000946863.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1338,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000906865.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Ala275Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576924.1",
"strand": true,
"transcript": "ENST00000906865.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1338,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000906867.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.824C>G",
"hgvs_p": "p.Ala275Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576926.1",
"strand": true,
"transcript": "ENST00000906867.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1308,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000906860.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Ala265Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576919.1",
"strand": true,
"transcript": "ENST00000906860.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1302,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940139.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Ala265Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610198.1",
"strand": true,
"transcript": "ENST00000940139.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 417,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1254,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906866.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576925.1",
"strand": true,
"transcript": "ENST00000906866.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 416,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3278,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1251,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906868.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576927.1",
"strand": true,
"transcript": "ENST00000906868.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 414,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1245,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_175609.3",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_783202.1",
"strand": true,
"transcript": "NM_175609.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1221,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000906863.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576922.1",
"strand": true,
"transcript": "ENST00000906863.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1221,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000906869.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576928.1",
"strand": true,
"transcript": "ENST00000906869.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3440,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1221,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940141.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610200.1",
"strand": true,
"transcript": "ENST00000940141.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 406,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1221,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000940142.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610201.1",
"strand": true,
"transcript": "ENST00000940142.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 403,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1212,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001281482.2",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001268411.1",
"strand": true,
"transcript": "NM_001281482.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 394,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1185,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906861.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576920.1",
"strand": true,
"transcript": "ENST00000906861.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 386,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1161,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940140.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610199.1",
"strand": true,
"transcript": "ENST00000940140.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1104,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940138.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610197.1",
"strand": true,
"transcript": "ENST00000940138.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 361,
"aa_ref": "A",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1086,
"cds_start": 548,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001281483.2",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.548C>G",
"hgvs_p": "p.Ala183Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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