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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: 14-50910030-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50910030&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50910030,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002863.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Lys681Arg",
"transcript": "NM_002863.5",
"protein_id": "NP_002854.3",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 847,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216392.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002863.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Lys681Arg",
"transcript": "ENST00000216392.8",
"protein_id": "ENSP00000216392.7",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 847,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002863.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216392.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Lys681Arg",
"transcript": "ENST00000532462.5",
"protein_id": "ENSP00000431657.1",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 819,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532462.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2057A>G",
"hgvs_p": "p.Lys686Arg",
"transcript": "ENST00000874287.1",
"protein_id": "ENSP00000544346.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 852,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874287.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2051A>G",
"hgvs_p": "p.Lys684Arg",
"transcript": "ENST00000874291.1",
"protein_id": "ENSP00000544350.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 850,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874291.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2039A>G",
"hgvs_p": "p.Lys680Arg",
"transcript": "ENST00000941158.1",
"protein_id": "ENSP00000611217.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 846,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941158.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2033A>G",
"hgvs_p": "p.Lys678Arg",
"transcript": "ENST00000874289.1",
"protein_id": "ENSP00000544348.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 844,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874289.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Lys681Arg",
"transcript": "ENST00000941160.1",
"protein_id": "ENSP00000611219.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 844,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941160.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2018A>G",
"hgvs_p": "p.Lys673Arg",
"transcript": "ENST00000941162.1",
"protein_id": "ENSP00000611221.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 839,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941162.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.2000A>G",
"hgvs_p": "p.Lys667Arg",
"transcript": "ENST00000874290.1",
"protein_id": "ENSP00000544349.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 833,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874290.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1991A>G",
"hgvs_p": "p.Lys664Arg",
"transcript": "ENST00000924121.1",
"protein_id": "ENSP00000594180.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 830,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924121.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1961A>G",
"hgvs_p": "p.Lys654Arg",
"transcript": "ENST00000924124.1",
"protein_id": "ENSP00000594183.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 820,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924124.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1955A>G",
"hgvs_p": "p.Lys652Arg",
"transcript": "ENST00000941159.1",
"protein_id": "ENSP00000611218.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 818,
"cds_start": 1955,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941159.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1940A>G",
"hgvs_p": "p.Lys647Arg",
"transcript": "NM_001163940.2",
"protein_id": "NP_001157412.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 813,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163940.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1940A>G",
"hgvs_p": "p.Lys647Arg",
"transcript": "ENST00000544180.6",
"protein_id": "ENSP00000443787.1",
"transcript_support_level": 2,
"aa_start": 647,
"aa_end": null,
"aa_length": 813,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544180.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1940A>G",
"hgvs_p": "p.Lys647Arg",
"transcript": "ENST00000874286.1",
"protein_id": "ENSP00000544345.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 813,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874286.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1931A>G",
"hgvs_p": "p.Lys644Arg",
"transcript": "ENST00000924122.1",
"protein_id": "ENSP00000594181.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 810,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924122.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1910A>G",
"hgvs_p": "p.Lys637Arg",
"transcript": "ENST00000924125.1",
"protein_id": "ENSP00000594184.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 803,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924125.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1847A>G",
"hgvs_p": "p.Lys616Arg",
"transcript": "ENST00000924123.1",
"protein_id": "ENSP00000594182.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 782,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924123.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1808A>G",
"hgvs_p": "p.Lys603Arg",
"transcript": "ENST00000874288.1",
"protein_id": "ENSP00000544347.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 769,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874288.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "c.1625A>G",
"hgvs_p": "p.Lys542Arg",
"transcript": "ENST00000941161.1",
"protein_id": "ENSP00000611220.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 708,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"hgvs_c": "n.215A>G",
"hgvs_p": null,
"transcript": "ENST00000532107.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532107.2"
}
],
"gene_symbol": "PYGL",
"gene_hgnc_id": 9725,
"dbsnp": "rs113993987",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9788490533828735,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.965,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.924,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.991,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"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,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002863.5",
"gene_symbol": "PYGL",
"hgnc_id": 9725,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Lys681Arg"
}
],
"clinvar_disease": " type VI,Glycogen storage disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Glycogen storage disease, type VI",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}