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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: 1-1293675-GC-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1293675&ref=GC&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ACAP3",
"hgnc_id": 16754,
"hgvs_c": "c.2393_2394delGCinsTG",
"hgvs_p": "p.Arg798Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_030649.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 834,
"aa_ref": "R",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3793,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2393,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030649.3",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2393_2394delGCinsTG",
"hgvs_p": "p.Arg798Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354700.10",
"protein_coding": true,
"protein_id": "NP_085152.2",
"strand": false,
"transcript": "NM_030649.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 834,
"aa_ref": "R",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3793,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2393,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354700.10",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2393_2394delGCinsTG",
"hgvs_p": "p.Arg798Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030649.3",
"protein_coding": true,
"protein_id": "ENSP00000346733.5",
"strand": false,
"transcript": "ENST00000354700.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 759,
"aa_ref": "R",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2168,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353662.4",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2168_2169delGCinsTG",
"hgvs_p": "p.Arg723Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321139.4",
"strand": false,
"transcript": "ENST00000353662.4",
"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": 2725,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000467278.5",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "n.1919_1920delGCinsTG",
"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": "ENST00000467278.5",
"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": 5319,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000492936.5",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "n.4033_4034delGCinsTG",
"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": "ENST00000492936.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 913,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4080,
"cdna_start": 2782,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969101.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2630_2631delGCinsTG",
"hgvs_p": "p.Arg877Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639160.1",
"strand": false,
"transcript": "ENST00000969101.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 855,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3378,
"cdna_start": 2575,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969106.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2456_2457delGCinsTG",
"hgvs_p": "p.Arg819Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639165.1",
"strand": false,
"transcript": "ENST00000969106.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3513,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969105.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2453_2454delGCinsTG",
"hgvs_p": "p.Arg818Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639164.1",
"strand": false,
"transcript": "ENST00000969105.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 850,
"aa_ref": "R",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892720.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2441_2442delGCinsTG",
"hgvs_p": "p.Arg814Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562779.1",
"strand": false,
"transcript": "ENST00000892720.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 844,
"aa_ref": "R",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 2542,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2423,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969102.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2423_2424delGCinsTG",
"hgvs_p": "p.Arg808Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639161.1",
"strand": false,
"transcript": "ENST00000969102.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 2497,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2381,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892719.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2381_2382delGCinsTG",
"hgvs_p": "p.Arg794Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562778.1",
"strand": false,
"transcript": "ENST00000892719.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2354,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969109.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2354_2355delGCinsTG",
"hgvs_p": "p.Arg785Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639168.1",
"strand": false,
"transcript": "ENST00000969109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 2441,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2351,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969103.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2351_2352delGCinsTG",
"hgvs_p": "p.Arg784Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639162.1",
"strand": false,
"transcript": "ENST00000969103.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 812,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3692,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 2439,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969104.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2327_2328delGCinsTG",
"hgvs_p": "p.Arg776Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639163.1",
"strand": false,
"transcript": "ENST00000969104.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 812,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 2395,
"cds_end": null,
"cds_length": 2439,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969111.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2327_2328delGCinsTG",
"hgvs_p": "p.Arg776Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639170.1",
"strand": false,
"transcript": "ENST00000969111.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 811,
"aa_ref": "R",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 2543,
"cds_end": null,
"cds_length": 2436,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969100.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2324_2325delGCinsTG",
"hgvs_p": "p.Arg775Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639159.1",
"strand": false,
"transcript": "ENST00000969100.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 802,
"aa_ref": "R",
"aa_start": 766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3862,
"cdna_start": 2563,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2297,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969099.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2297_2298delGCinsTG",
"hgvs_p": "p.Arg766Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639158.1",
"strand": false,
"transcript": "ENST00000969099.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 798,
"aa_ref": "R",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 2374,
"cds_end": null,
"cds_length": 2397,
"cds_start": 2285,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969110.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2285_2286delGCinsTG",
"hgvs_p": "p.Arg762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639169.1",
"strand": false,
"transcript": "ENST00000969110.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 786,
"aa_ref": "R",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 2352,
"cds_end": null,
"cds_length": 2361,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969107.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2249_2250delGCinsTG",
"hgvs_p": "p.Arg750Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639166.1",
"strand": false,
"transcript": "ENST00000969107.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 776,
"aa_ref": "R",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2331,
"cds_start": 2219,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969108.1",
"gene_hgnc_id": 16754,
"gene_symbol": "ACAP3",
"hgvs_c": "c.2219_2220delGCinsTG",
"hgvs_p": "p.Arg740Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639167.1",
"strand": false,
"transcript": "ENST00000969108.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 844,
"aa_ref": "R",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3823,
"cdna_start": 2539,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2423,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011540606.3",
"gene_hgnc_id": 16754,
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