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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: 12-48107378-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48107378&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PFKM",
"hgnc_id": 8877,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001354735.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0601,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10548922419548035,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 883,
"aa_ref": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 151,
"cds_end": null,
"cds_length": 2652,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354735.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 210,
"cds_end": null,
"cds_length": 2652,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354736.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": 149,
"cds_end": null,
"cds_length": 2652,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000642730.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": 851,
"aa_ref": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": 229,
"cds_end": null,
"cds_length": 2556,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001166686.2",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 210,
"cds_end": null,
"cds_length": 2556,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354737.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 80,
"cds_end": null,
"cds_length": 2556,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354738.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 151,
"cds_end": null,
"cds_length": 2556,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354739.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3476,
"cdna_start": 229,
"cds_end": null,
"cds_length": 2556,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000340802.12",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": 820,
"aa_ref": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": 220,
"cds_end": null,
"cds_length": 2463,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001439058.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"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": 164,
"aa_ref": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": 80,
"cds_end": null,
"cds_length": 495,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000549366.5",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449622.1",
"strand": true,
"transcript": "ENST00000549366.5",
"transcript_support_level": 4
},
{
"aa_alt": "R",
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"aa_length": 148,
"aa_ref": "H",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 626,
"cdna_start": 182,
"cds_end": null,
"cds_length": 449,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000552792.5",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448940.1",
"strand": true,
"transcript": "ENST00000552792.5",
"transcript_support_level": 4
},
{
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"aa_length": 140,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 162,
"cds_end": null,
"cds_length": 425,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
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"feature": "ENST00000548288.5",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448018.1",
"strand": true,
"transcript": "ENST00000548288.5",
"transcript_support_level": 4
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 590,
"cdna_start": 219,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000546755.5",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000450173.1",
"strand": true,
"transcript": "ENST00000546755.5",
"transcript_support_level": 4
},
{
"aa_alt": "R",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 344,
"cds_end": null,
"cds_length": 2862,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047428999.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.His72Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284955.1",
"strand": true,
"transcript": "XM_047428999.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3594,
"cdna_start": 344,
"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 2,
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"feature": "XM_011538487.2",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.His72Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536789.2",
"strand": true,
"transcript": "XM_011538487.2",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 344,
"cds_end": null,
"cds_length": 2766,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047429000.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.215A>G",
"hgvs_p": "p.His72Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284956.1",
"strand": true,
"transcript": "XM_047429000.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 80,
"cds_end": null,
"cds_length": 2652,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005268974.2",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.His2Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005269031.1",
"strand": true,
"transcript": "XM_005268974.2",
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},
{
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"cds_start": 5,
"consequences": [
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],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005268976.4",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.5A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005269033.1",
"strand": true,
"transcript": "XM_005268976.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 2950,
"cdna_start": null,
"cds_end": null,
"cds_length": 2343,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000873523.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.-86A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543582.1",
"strand": true,
"transcript": "ENST00000873523.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": null,
"cds_end": null,
"cds_length": 2343,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000873524.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.-209A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543583.1",
"strand": true,
"transcript": "ENST00000873524.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 780,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": null,
"cds_end": null,
"cds_length": 2343,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000873525.1",
"gene_hgnc_id": 8877,
"gene_symbol": "PFKM",
"hgvs_c": "c.-209A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543584.1",
"strand": true,
"transcript": "ENST00000873525.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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