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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: 10-27533955-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27533955&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27533955,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000356940.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "NM_021252.5",
"protein_id": "NP_067075.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 206,
"cds_start": 406,
"cds_end": null,
"cds_length": 621,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "ENST00000356940.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser",
"transcript": "ENST00000356940.11",
"protein_id": "ENSP00000349415.7",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 206,
"cds_start": 406,
"cds_end": null,
"cds_length": 621,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "NM_021252.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Gly165Ser",
"transcript": "ENST00000621805.6",
"protein_id": "ENSP00000478479.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 235,
"cds_start": 493,
"cds_end": null,
"cds_length": 708,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 7910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Gly165Ser",
"transcript": "NM_001256410.2",
"protein_id": "NP_001243339.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 235,
"cds_start": 493,
"cds_end": null,
"cds_length": 708,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Gly165Ser",
"transcript": "ENST00000535776.6",
"protein_id": "ENSP00000439321.2",
"transcript_support_level": 2,
"aa_start": 165,
"aa_end": null,
"aa_length": 183,
"cds_start": 493,
"cds_end": null,
"cds_length": 552,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Gly91Ser",
"transcript": "ENST00000375802.7",
"protein_id": "ENSP00000364960.3",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 161,
"cds_start": 271,
"cds_end": null,
"cds_length": 486,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Ser",
"transcript": "NM_001256412.2",
"protein_id": "NP_001243341.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 142,
"cds_start": 214,
"cds_end": null,
"cds_length": 429,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Ser",
"transcript": "ENST00000682389.1",
"protein_id": "ENSP00000507154.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 142,
"cds_start": 214,
"cds_end": null,
"cds_length": 429,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"transcript": "ENST00000682963.1",
"protein_id": "ENSP00000507532.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 89,
"cds_start": 55,
"cds_end": null,
"cds_length": 270,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Gly64Ser",
"transcript": "ENST00000683924.1",
"protein_id": "ENSP00000507963.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 84,
"cds_start": 190,
"cds_end": null,
"cds_length": 255,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Gly10Ser",
"transcript": "ENST00000682347.1",
"protein_id": "ENSP00000508355.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 50,
"cds_start": 28,
"cds_end": null,
"cds_length": 153,
"cdna_start": 28,
"cdna_end": null,
"cdna_length": 522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.55G>A",
"hgvs_p": "p.Gly19Ser",
"transcript": "ENST00000683797.1",
"protein_id": "ENSP00000508179.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 44,
"cds_start": 55,
"cds_end": null,
"cds_length": 136,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Lys131Lys",
"transcript": "ENST00000683755.1",
"protein_id": "ENSP00000506993.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 132,
"cds_start": 393,
"cds_end": null,
"cds_length": 399,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1800,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.*194G>A",
"hgvs_p": null,
"transcript": "ENST00000611151.5",
"protein_id": "ENSP00000483927.2",
"transcript_support_level": 5,
"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": 4941,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.406G>A",
"hgvs_p": null,
"transcript": "ENST00000682082.1",
"protein_id": "ENSP00000507542.1",
"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": 1443,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.*17G>A",
"hgvs_p": null,
"transcript": "ENST00000682173.1",
"protein_id": "ENSP00000508395.1",
"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": 1522,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.*711G>A",
"hgvs_p": null,
"transcript": "ENST00000682181.1",
"protein_id": "ENSP00000507392.1",
"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": 3231,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.421G>A",
"hgvs_p": null,
"transcript": "ENST00000682518.1",
"protein_id": null,
"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": 2735,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.*583G>A",
"hgvs_p": null,
"transcript": "ENST00000682668.1",
"protein_id": "ENSP00000508082.1",
"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": 3073,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.1573G>A",
"hgvs_p": null,
"transcript": "ENST00000682777.1",
"protein_id": null,
"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": 6518,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.*251G>A",
"hgvs_p": null,
"transcript": "ENST00000682852.1",
"protein_id": "ENSP00000508341.1",
"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": 2796,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.564G>A",
"hgvs_p": null,
"transcript": "ENST00000683042.1",
"protein_id": null,
"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": 835,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.313G>A",
"hgvs_p": null,
"transcript": "ENST00000683385.1",
"protein_id": null,
"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,
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"gene_hgnc_id": 14244,
"dbsnp": "rs757213835",
"frequency_reference_population": 0.0000049721434,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000480501,
"gnomad_genomes_af": 0.00000657246,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8936311602592468,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.874,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000356940.11",
"gene_symbol": "RAB18",
"hgnc_id": 14244,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Gly136Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}