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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: 10-3099299-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3099299&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 3099299,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001410880.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "NM_002627.5",
"protein_id": "NP_002618.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 784,
"cds_start": 211,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": "ENST00000381125.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002627.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000381125.9",
"protein_id": "ENSP00000370517.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 784,
"cds_start": 211,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": "NM_002627.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381125.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "NM_001410880.1",
"protein_id": "NP_001397809.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 835,
"cds_start": 211,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410880.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000699222.1",
"protein_id": "ENSP00000514216.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 835,
"cds_start": 211,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699222.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000963518.1",
"protein_id": "ENSP00000633577.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 827,
"cds_start": 211,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963518.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000963522.1",
"protein_id": "ENSP00000633581.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 817,
"cds_start": 211,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963522.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000963523.1",
"protein_id": "ENSP00000633582.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 816,
"cds_start": 211,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963523.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000963519.1",
"protein_id": "ENSP00000633578.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 815,
"cds_start": 211,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963519.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000963520.1",
"protein_id": "ENSP00000633579.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 798,
"cds_start": 211,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963520.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000867378.1",
"protein_id": "ENSP00000537437.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 784,
"cds_start": 211,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867378.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000867383.1",
"protein_id": "ENSP00000537442.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 783,
"cds_start": 211,
"cds_end": null,
"cds_length": 2352,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867383.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000867380.1",
"protein_id": "ENSP00000537439.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 782,
"cds_start": 211,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867380.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Arg36Lys",
"transcript": "NM_001242339.2",
"protein_id": "NP_001229268.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 776,
"cds_start": 107,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242339.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000867379.1",
"protein_id": "ENSP00000537438.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 769,
"cds_start": 211,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867379.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Gly44Ser",
"transcript": "NM_001323067.2",
"protein_id": "NP_001309996.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 757,
"cds_start": 130,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323067.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Gly33Ser",
"transcript": "NM_001323071.2",
"protein_id": "NP_001310000.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 746,
"cds_start": 97,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323071.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Gly33Ser",
"transcript": "NM_001323072.2",
"protein_id": "NP_001310001.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 746,
"cds_start": 97,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323072.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Gly33Ser",
"transcript": "NM_001345944.1",
"protein_id": "NP_001332873.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 746,
"cds_start": 97,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345944.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Gly33Ser",
"transcript": "ENST00000381075.7",
"protein_id": "ENSP00000370465.3",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 746,
"cds_start": 97,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381075.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Gly33Ser",
"transcript": "ENST00000676796.1",
"protein_id": "ENSP00000503786.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 746,
"cds_start": 97,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676796.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "NM_001323068.2",
"protein_id": "NP_001309997.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 733,
"cds_start": 211,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323068.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Gly71Ser",
"transcript": "ENST00000867382.1",
"protein_id": "ENSP00000537441.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 733,
"cds_start": 211,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867382.1"
},
{
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{
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],
"gene_symbol": "PFKP",
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"dbsnp": "rs565751941",
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"computational_score_selected": 0.9681046009063721,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.713,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1006,
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"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.658,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001410880.1",
"gene_symbol": "PFKP",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}