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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: 12-48132913-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48132913&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PFKM",
"hgnc_id": 8877,
"hgvs_c": "c.592C>A",
"hgvs_p": "p.Arg198Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001354735.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR6505",
"hgnc_id": 50104,
"hgvs_c": "n.*46C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NR_106760.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP7",
"acmg_score": 1,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": -0.029999999329447746,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 780,
"aa_ref": "R",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 334,
"cds_end": null,
"cds_length": 2343,
"cds_start": 283,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000289.6",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Arg95Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359794.11",
"protein_coding": true,
"protein_id": "NP_000280.1",
"strand": true,
"transcript": "NM_000289.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 780,
"aa_ref": "R",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 334,
"cds_end": null,
"cds_length": 2343,
"cds_start": 283,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000359794.11",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Arg95Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000289.6",
"protein_coding": true,
"protein_id": "ENSP00000352842.5",
"strand": true,
"transcript": "ENST00000359794.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 780,
"aa_ref": "R",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 322,
"cds_end": null,
"cds_length": 2343,
"cds_start": 283,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000312352.11",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Arg95Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000309438.7",
"strand": true,
"transcript": "ENST00000312352.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 780,
"aa_ref": "R",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 411,
"cds_end": null,
"cds_length": 2343,
"cds_start": 283,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000547587.5",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Arg95Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449426.1",
"strand": true,
"transcript": "ENST00000547587.5",
"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": 3063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000546964.5",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "n.355C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000546964.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 883,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 738,
"cds_end": null,
"cds_length": 2652,
"cds_start": 592,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354735.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.592C>A",
"hgvs_p": "p.Arg198Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341664.1",
"strand": true,
"transcript": "NM_001354735.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 883,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 797,
"cds_end": null,
"cds_length": 2652,
"cds_start": 592,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001354736.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.592C>A",
"hgvs_p": "p.Arg198Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341665.1",
"strand": true,
"transcript": "NM_001354736.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 883,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": 736,
"cds_end": null,
"cds_length": 2652,
"cds_start": 592,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642730.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.592C>A",
"hgvs_p": "p.Arg198Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496597.1",
"strand": true,
"transcript": "ENST00000642730.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 854,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 629,
"cds_end": null,
"cds_length": 2565,
"cds_start": 505,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000550257.7",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.505C>A",
"hgvs_p": "p.Arg169Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447997.3",
"strand": true,
"transcript": "ENST00000550257.7",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": 720,
"cds_end": null,
"cds_length": 2556,
"cds_start": 496,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001166686.2",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001160158.1",
"strand": true,
"transcript": "NM_001166686.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 701,
"cds_end": null,
"cds_length": 2556,
"cds_start": 496,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354737.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341666.1",
"strand": true,
"transcript": "NM_001354737.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 571,
"cds_end": null,
"cds_length": 2556,
"cds_start": 496,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354738.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341667.1",
"strand": true,
"transcript": "NM_001354738.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 642,
"cds_end": null,
"cds_length": 2556,
"cds_start": 496,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354739.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341668.1",
"strand": true,
"transcript": "NM_001354739.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": 720,
"cds_end": null,
"cds_length": 2556,
"cds_start": 496,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000340802.12",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345771.6",
"strand": true,
"transcript": "ENST00000340802.12",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 524,
"cds_end": null,
"cds_length": 2487,
"cds_start": 427,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001354740.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Arg143Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341669.1",
"strand": true,
"transcript": "NM_001354740.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": 711,
"cds_end": null,
"cds_length": 2463,
"cds_start": 496,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001439058.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.496C>A",
"hgvs_p": "p.Arg166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425987.1",
"strand": true,
"transcript": "NM_001439058.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 802,
"aa_ref": "R",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2859,
"cdna_start": 337,
"cds_end": null,
"cds_length": 2409,
"cds_start": 283,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942241.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Arg95Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612300.1",
"strand": true,
"transcript": "ENST00000942241.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2836,
"cdna_start": 341,
"cds_end": null,
"cds_length": 2382,
"cds_start": 283,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942240.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Arg95Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612299.1",
"strand": true,
"transcript": "ENST00000942240.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 791,
"aa_ref": "R",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 351,
"cds_end": null,
"cds_length": 2376,
"cds_start": 283,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942236.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Arg95Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612295.1",
"strand": true,
"transcript": "ENST00000942236.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 386,
"cds_end": null,
"cds_length": 2373,
"cds_start": 283,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000873532.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.283C>A",
"hgvs_p": "p.Arg95Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543591.1",
"strand": true,
"transcript": "ENST00000873532.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 788,
"aa_ref": "R",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 454,
"cds_end": null,
"cds_length": 2367,
"cds_start": 307,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 6,
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