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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: 20-63278940-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63278940&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARFGAP1",
"hgnc_id": 15852,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_175609.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 59,
"alphamissense_prediction": null,
"alphamissense_score": 0.0629,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "20",
"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": 0.07519057393074036,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 406,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1221,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_018209.4",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 406,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1221,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000370283.9",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1245,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000353546.7",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 403,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1212,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000370275.8",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 459,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1380,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946863.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1338,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906865.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "P",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": 801,
"cds_end": null,
"cds_length": 1338,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906867.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"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": "L",
"aa_end": null,
"aa_length": 435,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1308,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906860.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 434,
"aa_ref": "P",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1305,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946862.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616921.1",
"strand": true,
"transcript": "ENST00000946862.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 433,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1302,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000940139.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1254,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906866.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3278,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1251,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906868.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1245,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_175609.3",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 406,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1221,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906863.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 406,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1221,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906869.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 406,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3440,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1221,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940141.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 406,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1221,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940142.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 403,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1212,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001281482.2",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 395,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1188,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906862.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576921.1",
"strand": true,
"transcript": "ENST00000906862.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 394,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1185,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906861.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"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": "L",
"aa_end": null,
"aa_length": 393,
"aa_ref": "P",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1182,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000940137.1",
"gene_hgnc_id": 15852,
"gene_symbol": "ARFGAP1",
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}