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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-20175244-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20175244&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20175244,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000379565.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Trp",
"transcript": "NM_004586.3",
"protein_id": "NP_004577.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 740,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": "ENST00000379565.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Trp",
"transcript": "ENST00000379565.9",
"protein_id": "ENSP00000368884.3",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 740,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": "NM_004586.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "NM_001438340.1",
"protein_id": "NP_001425269.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 7693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000642835.1",
"protein_id": "ENSP00000494769.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000643085.1",
"protein_id": "ENSP00000496271.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000643337.1",
"protein_id": "ENSP00000493487.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000643402.1",
"protein_id": "ENSP00000493862.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000644368.1",
"protein_id": "ENSP00000495776.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000645270.1",
"protein_id": "ENSP00000494967.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000646610.1",
"protein_id": "ENSP00000495462.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000647265.1",
"protein_id": "ENSP00000494220.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 712,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Trp",
"transcript": "ENST00000457145.6",
"protein_id": "ENSP00000407655.2",
"transcript_support_level": 2,
"aa_start": 354,
"aa_end": null,
"aa_length": 711,
"cds_start": 1060,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Arg355Trp",
"transcript": "ENST00000644893.1",
"protein_id": "ENSP00000495974.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 711,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Trp",
"transcript": "XM_011545555.2",
"protein_id": "XP_011543857.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 746,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Arg389Trp",
"transcript": "XM_011545556.2",
"protein_id": "XP_011543858.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 745,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 8002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Trp",
"transcript": "XM_047442332.1",
"protein_id": "XP_047298288.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 740,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Trp",
"transcript": "XM_005274573.3",
"protein_id": "XP_005274630.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 739,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1147C>T",
"hgvs_p": "p.Arg383Trp",
"transcript": "XM_047442333.1",
"protein_id": "XP_047298289.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 739,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Trp",
"transcript": "XM_011545557.3",
"protein_id": "XP_011543859.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 718,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 8136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Trp",
"transcript": "XM_011545560.2",
"protein_id": "XP_011543862.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 718,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 8042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361Trp",
"transcript": "XM_011545561.3",
"protein_id": "XP_011543863.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 718,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 7718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.Arg360Trp",
"transcript": "XM_011545562.3",
"protein_id": "XP_011543864.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 717,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 7750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
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],
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"PP5"
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": " X-linked 19,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, X-linked 19",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}