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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-20155453-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20155453&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20155453,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000379565.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2168G>A",
"hgvs_p": "p.Arg723His",
"transcript": "NM_004586.3",
"protein_id": "NP_004577.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 740,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": "ENST00000379565.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2168G>A",
"hgvs_p": "p.Arg723His",
"transcript": "ENST00000379565.9",
"protein_id": "ENSP00000368884.3",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 740,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": "NM_004586.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "NM_001438340.1",
"protein_id": "NP_001425269.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 7693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000642835.1",
"protein_id": "ENSP00000494769.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2366,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000643085.1",
"protein_id": "ENSP00000496271.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000643337.1",
"protein_id": "ENSP00000493487.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2567,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000643402.1",
"protein_id": "ENSP00000493862.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000644368.1",
"protein_id": "ENSP00000495776.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000645270.1",
"protein_id": "ENSP00000494967.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2315,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000646610.1",
"protein_id": "ENSP00000495462.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2084G>A",
"hgvs_p": "p.Arg695His",
"transcript": "ENST00000647265.1",
"protein_id": "ENSP00000494220.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 712,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2081G>A",
"hgvs_p": "p.Arg694His",
"transcript": "ENST00000457145.6",
"protein_id": "ENSP00000407655.2",
"transcript_support_level": 2,
"aa_start": 694,
"aa_end": null,
"aa_length": 711,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2081G>A",
"hgvs_p": "p.Arg694His",
"transcript": "ENST00000644893.1",
"protein_id": "ENSP00000495974.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 711,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000479809.1",
"protein_id": "ENSP00000494866.1",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 280,
"cds_start": 833,
"cds_end": null,
"cds_length": 845,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Arg729His",
"transcript": "XM_011545555.2",
"protein_id": "XP_011543857.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 746,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2183G>A",
"hgvs_p": "p.Arg728His",
"transcript": "XM_011545556.2",
"protein_id": "XP_011543858.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 745,
"cds_start": 2183,
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"cds_length": 2238,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 8002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723His",
"transcript": "XM_047442332.1",
"protein_id": "XP_047298288.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 740,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2445,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2165G>A",
"hgvs_p": "p.Arg722His",
"transcript": "XM_005274573.3",
"protein_id": "XP_005274630.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 739,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.2165G>A",
"hgvs_p": "p.Arg722His",
"transcript": "XM_047442333.1",
"protein_id": "XP_047298289.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
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"cds_start": 2165,
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"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2102G>A",
"hgvs_p": "p.Arg701His",
"transcript": "XM_011545557.3",
"protein_id": "XP_011543859.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 718,
"cds_start": 2102,
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"cdna_start": 2594,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2102G>A",
"hgvs_p": "p.Arg701His",
"transcript": "XM_011545560.2",
"protein_id": "XP_011543862.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 718,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 8042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2102G>A",
"hgvs_p": "p.Arg701His",
"transcript": "XM_011545561.3",
"protein_id": "XP_011543863.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 718,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 7718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
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}
],
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"dbsnp": "rs144984628",
"frequency_reference_population": 0.0012830871,
"hom_count_reference_population": 474,
"allele_count_reference_population": 1550,
"gnomad_exomes_af": 0.00128549,
"gnomad_genomes_af": 0.00125937,
"gnomad_exomes_ac": 1410,
"gnomad_genomes_ac": 140,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008939146995544434,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.0814,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.802,
"phylop100way_prediction": "Uncertain_significance",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000379565.9",
"gene_symbol": "RPS6KA3",
"hgnc_id": 10432,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,XL",
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723His"
}
],
"clinvar_disease": " X-linked 19,Coffin-Lowry syndrome,Inborn genetic diseases,Intellectual disability,RPS6KA3-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:7",
"phenotype_combined": "Intellectual disability, X-linked 19|Coffin-Lowry syndrome|not specified|not provided|Coffin-Lowry syndrome;Intellectual disability, X-linked 19|Intellectual disability|RPS6KA3-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}