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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: 17-80113282-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80113282&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 80113282,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000152.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "NM_000152.5",
"protein_id": "NP_000143.2",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": "ENST00000302262.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "ENST00000302262.8",
"protein_id": "ENSP00000305692.3",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": "NM_000152.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "ENST00000390015.7",
"protein_id": "ENSP00000374665.3",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "NM_001079803.3",
"protein_id": "NP_001073271.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "NM_001079804.3",
"protein_id": "NP_001073272.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "NM_001406741.1",
"protein_id": "NP_001393670.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "NM_001406742.1",
"protein_id": "NP_001393671.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "ENST00000570803.6",
"protein_id": "ENSP00000460543.2",
"transcript_support_level": 5,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "ENST00000577106.6",
"protein_id": "ENSP00000458306.2",
"transcript_support_level": 3,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "ENST00000714057.1",
"protein_id": "ENSP00000519347.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "ENST00000714058.1",
"protein_id": "ENSP00000519348.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "ENST00000714055.1",
"protein_id": "ENSP00000519345.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 922,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.1304G>C",
"hgvs_p": "p.Arg435Pro",
"transcript": "ENST00000714054.1",
"protein_id": "ENSP00000519344.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 685,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.1184G>C",
"hgvs_p": "p.Arg395Pro",
"transcript": "ENST00000714062.1",
"protein_id": "ENSP00000519352.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 645,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro",
"transcript": "XM_047435719.1",
"protein_id": "XP_047291675.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 952,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "n.*243G>C",
"hgvs_p": null,
"transcript": "ENST00000572080.2",
"protein_id": "ENSP00000459972.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "n.*409G>C",
"hgvs_p": null,
"transcript": "ENST00000714056.1",
"protein_id": "ENSP00000519346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "n.*1444G>C",
"hgvs_p": null,
"transcript": "ENST00000714061.1",
"protein_id": "ENSP00000519351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "n.*243G>C",
"hgvs_p": null,
"transcript": "ENST00000572080.2",
"protein_id": "ENSP00000459972.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "n.*409G>C",
"hgvs_p": null,
"transcript": "ENST00000714056.1",
"protein_id": "ENSP00000519346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "n.*1444G>C",
"hgvs_p": null,
"transcript": "ENST00000714061.1",
"protein_id": "ENSP00000519351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"hgvs_c": "n.*11G>C",
"hgvs_p": null,
"transcript": "ENST00000570716.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GAA",
"gene_hgnc_id": 4065,
"dbsnp": "rs398123172",
"frequency_reference_population": 6.905791e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90579e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9946273565292358,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.989,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9513,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.61,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.743,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PM2_Supporting,PM3_Supporting,PM5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PP3",
"PM2_Supporting",
"PM3_Supporting",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000152.5",
"gene_symbol": "GAA",
"hgnc_id": 4065,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2105G>C",
"hgvs_p": "p.Arg702Pro"
}
],
"clinvar_disease": " type II,Glycogen storage disease,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LP:2 US:2",
"phenotype_combined": "not provided|not specified|Glycogen storage disease, type II",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}