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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: X-20155503-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20155503&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20155503,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_004586.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2118A>G",
"hgvs_p": "p.Thr706Thr",
"transcript": "NM_004586.3",
"protein_id": "NP_004577.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 740,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": "ENST00000379565.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004586.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2118A>G",
"hgvs_p": "p.Thr706Thr",
"transcript": "ENST00000379565.9",
"protein_id": "ENSP00000368884.3",
"transcript_support_level": 1,
"aa_start": 706,
"aa_end": null,
"aa_length": 740,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": "NM_004586.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379565.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2166A>G",
"hgvs_p": "p.Thr722Thr",
"transcript": "ENST00000952699.1",
"protein_id": "ENSP00000622758.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 756,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952699.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2136A>G",
"hgvs_p": "p.Thr712Thr",
"transcript": "ENST00000916293.1",
"protein_id": "ENSP00000586352.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 746,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916293.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2133A>G",
"hgvs_p": "p.Thr711Thr",
"transcript": "ENST00000952703.1",
"protein_id": "ENSP00000622762.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 745,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952703.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2124A>G",
"hgvs_p": "p.Thr708Thr",
"transcript": "ENST00000952700.1",
"protein_id": "ENSP00000622759.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 742,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952700.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2112A>G",
"hgvs_p": "p.Thr704Thr",
"transcript": "ENST00000916295.1",
"protein_id": "ENSP00000586354.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 738,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916295.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2109A>G",
"hgvs_p": "p.Thr703Thr",
"transcript": "ENST00000916291.1",
"protein_id": "ENSP00000586350.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 737,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916291.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2079A>G",
"hgvs_p": "p.Thr693Thr",
"transcript": "ENST00000952702.1",
"protein_id": "ENSP00000622761.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 727,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952702.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2061A>G",
"hgvs_p": "p.Thr687Thr",
"transcript": "ENST00000916294.1",
"protein_id": "ENSP00000586353.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 721,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916294.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2037A>G",
"hgvs_p": "p.Thr679Thr",
"transcript": "ENST00000952698.1",
"protein_id": "ENSP00000622757.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 713,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952698.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "NM_001438340.1",
"protein_id": "NP_001425269.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 7693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438340.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "ENST00000642835.1",
"protein_id": "ENSP00000494769.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642835.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "ENST00000643085.1",
"protein_id": "ENSP00000496271.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643085.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "ENST00000643337.1",
"protein_id": "ENSP00000493487.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643337.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "ENST00000643402.1",
"protein_id": "ENSP00000493862.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643402.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "ENST00000644368.1",
"protein_id": "ENSP00000495776.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644368.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "ENST00000645270.1",
"protein_id": "ENSP00000494967.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645270.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "ENST00000646610.1",
"protein_id": "ENSP00000495462.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646610.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2034A>G",
"hgvs_p": "p.Thr678Thr",
"transcript": "ENST00000647265.1",
"protein_id": "ENSP00000494220.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 712,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647265.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2031A>G",
"hgvs_p": "p.Thr677Thr",
"transcript": "ENST00000457145.6",
"protein_id": "ENSP00000407655.2",
"transcript_support_level": 2,
"aa_start": 677,
"aa_end": null,
"aa_length": 711,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457145.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
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}
],
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"dbsnp": "rs760969945",
"frequency_reference_population": 0.000017880931,
"hom_count_reference_population": 1,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000178809,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.777,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_004586.3",
"gene_symbol": "RPS6KA3",
"hgnc_id": 10432,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,XL",
"hgvs_c": "c.2118A>G",
"hgvs_p": "p.Thr706Thr"
}
],
"clinvar_disease": " X-linked 19,Coffin-Lowry syndrome,Intellectual disability",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Intellectual disability, X-linked 19;Coffin-Lowry syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}