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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: 10-3067617-GCC-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3067617&ref=GCC&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PFKP",
"hgnc_id": 8878,
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001410880.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "PFKP-DT",
"hgnc_id": 55177,
"hgvs_c": "n.292+302_292+304delGGCinsAGT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000820060.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"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": "T",
"aa_end": null,
"aa_length": 784,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2355,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002627.5",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381125.9",
"protein_coding": true,
"protein_id": "NP_002618.1",
"strand": true,
"transcript": "NM_002627.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 784,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2355,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381125.9",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002627.5",
"protein_coding": true,
"protein_id": "ENSP00000370517.4",
"strand": true,
"transcript": "ENST00000381125.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 835,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2508,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410880.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397809.1",
"strand": true,
"transcript": "NM_001410880.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 835,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 116,
"cds_end": null,
"cds_length": 2508,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699222.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514216.1",
"strand": true,
"transcript": "ENST00000699222.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 827,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 137,
"cds_end": null,
"cds_length": 2484,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963518.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633577.1",
"strand": true,
"transcript": "ENST00000963518.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 817,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 85,
"cds_end": null,
"cds_length": 2454,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963522.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633581.1",
"strand": true,
"transcript": "ENST00000963522.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 816,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2451,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963523.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633582.1",
"strand": true,
"transcript": "ENST00000963523.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 815,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 112,
"cds_end": null,
"cds_length": 2448,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963519.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633578.1",
"strand": true,
"transcript": "ENST00000963519.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 798,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 98,
"cds_end": null,
"cds_length": 2397,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963520.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633579.1",
"strand": true,
"transcript": "ENST00000963520.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 784,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 149,
"cds_end": null,
"cds_length": 2355,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867378.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537437.1",
"strand": true,
"transcript": "ENST00000867378.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 783,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2352,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867383.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537442.1",
"strand": true,
"transcript": "ENST00000867383.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 782,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 89,
"cds_end": null,
"cds_length": 2349,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867380.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537439.1",
"strand": true,
"transcript": "ENST00000867380.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 769,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 137,
"cds_end": null,
"cds_length": 2310,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867379.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537438.1",
"strand": true,
"transcript": "ENST00000867379.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2202,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323068.2",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309997.1",
"strand": true,
"transcript": "NM_001323068.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 733,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2202,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867382.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537441.1",
"strand": true,
"transcript": "ENST00000867382.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 719,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2160,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867381.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537440.1",
"strand": true,
"transcript": "ENST00000867381.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 87,
"cds_end": null,
"cds_length": 1530,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963521.1",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633580.1",
"strand": true,
"transcript": "ENST00000963521.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 784,
"aa_ref": "A",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 70,
"cds_end": null,
"cds_length": 2355,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005252466.5",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.22_24delGCCinsACT",
"hgvs_p": "p.Ala8Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252523.1",
"strand": true,
"transcript": "XM_005252466.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 746,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": null,
"cds_end": null,
"cds_length": 2241,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001323071.2",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.-209_-207delGCCinsACT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310000.1",
"strand": true,
"transcript": "NM_001323071.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": null,
"cds_end": null,
"cds_length": 1848,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001323069.2",
"gene_hgnc_id": 8878,
"gene_symbol": "PFKP",
"hgvs_c": "c.-481_-479delGCCinsACT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309998.1",
"strand": true,
"transcript": "NM_001323069.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 112,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 432,
"cdna_start": null,
"cds_end": null,
"cds_length": 340,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
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