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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: 1-42746793-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42746793&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "P3H1",
"hgnc_id": 19316,
"hgvs_c": "c.2115C>T",
"hgvs_p": "p.Leu705Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_022356.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 1178,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "Osteogenesis imperfecta type 8,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.46000000834465027,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 736,
"aa_ref": "L",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2115,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_022356.4",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2115C>T",
"hgvs_p": "p.Leu705Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296388.10",
"protein_coding": true,
"protein_id": "NP_071751.3",
"strand": false,
"transcript": "NM_022356.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 736,
"aa_ref": "L",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 2211,
"cds_start": 2115,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000296388.10",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2115C>T",
"hgvs_p": "p.Leu705Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022356.4",
"protein_coding": true,
"protein_id": "ENSP00000296388.5",
"strand": false,
"transcript": "ENST00000296388.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 697,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": null,
"cds_end": null,
"cds_length": 2094,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000397054.7",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.*40C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380245.3",
"strand": false,
"transcript": "ENST00000397054.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 844,
"aa_ref": "L",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 2498,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2439,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907902.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2439C>T",
"hgvs_p": "p.Leu813Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577961.1",
"strand": false,
"transcript": "ENST00000907902.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2316,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907901.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2316C>T",
"hgvs_p": "p.Leu772Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577960.1",
"strand": false,
"transcript": "ENST00000907901.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 793,
"aa_ref": "L",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 2364,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2286,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000964923.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2286C>T",
"hgvs_p": "p.Leu762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634982.1",
"strand": false,
"transcript": "ENST00000964923.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 770,
"aa_ref": "L",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 2313,
"cds_start": 2217,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000928449.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2217C>T",
"hgvs_p": "p.Leu739Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598508.1",
"strand": false,
"transcript": "ENST00000928449.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2175,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000907903.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2175C>T",
"hgvs_p": "p.Leu725Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577962.1",
"strand": false,
"transcript": "ENST00000907903.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 752,
"aa_ref": "L",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2163,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000928451.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2163C>T",
"hgvs_p": "p.Leu721Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598510.1",
"strand": false,
"transcript": "ENST00000928451.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 731,
"aa_ref": "L",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2100,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000928450.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2100C>T",
"hgvs_p": "p.Leu700Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598509.1",
"strand": false,
"transcript": "ENST00000928450.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 726,
"aa_ref": "L",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 2181,
"cds_start": 2085,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000928452.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2085C>T",
"hgvs_p": "p.Leu695Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598511.1",
"strand": false,
"transcript": "ENST00000928452.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "L",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2121,
"cds_start": 2025,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000907904.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2025C>T",
"hgvs_p": "p.Leu675Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577963.1",
"strand": false,
"transcript": "ENST00000907904.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 685,
"aa_ref": "L",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1962,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000907905.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.1962C>T",
"hgvs_p": "p.Leu654Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577964.1",
"strand": false,
"transcript": "ENST00000907905.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 803,
"aa_ref": "L",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2316,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427616.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.2316C>T",
"hgvs_p": "p.Leu772Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283572.1",
"strand": false,
"transcript": "XM_047427616.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 478,
"aa_ref": "L",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1341,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047427621.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Leu447Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283577.1",
"strand": false,
"transcript": "XM_047427621.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "L",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1338,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047427626.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.1338C>T",
"hgvs_p": "p.Leu446Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283582.1",
"strand": false,
"transcript": "XM_047427626.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 434,
"aa_ref": "L",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1209,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047427629.1",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.1209C>T",
"hgvs_p": "p.Leu403Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283585.1",
"strand": false,
"transcript": "XM_047427629.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 804,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": null,
"cds_end": null,
"cds_length": 2415,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001243246.2",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.*119C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230175.1",
"strand": false,
"transcript": "NM_001243246.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 804,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": null,
"cds_end": null,
"cds_length": 2415,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000236040.8",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.*119C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000236040.4",
"strand": false,
"transcript": "ENST00000236040.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 697,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": null,
"cds_end": null,
"cds_length": 2094,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001146289.2",
"gene_hgnc_id": 19316,
"gene_symbol": "P3H1",
"hgvs_c": "c.*40C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139761.1",
"strand": false,
"transcript": "NM_001146289.2",
"transcript_support_level": null
},
{
"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": 2726,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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