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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: 1-151344475-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151344475&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151344475,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000452671.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_001025603.2",
"protein_id": "NP_001020774.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": "ENST00000452671.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "ENST00000452671.7",
"protein_id": "ENSP00000389130.2",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": "NM_001025603.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "ENST00000290524.8",
"protein_id": "ENSP00000290524.4",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_000449.4",
"protein_id": "NP_000440.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_001379412.1",
"protein_id": "NP_001366341.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_001379413.1",
"protein_id": "NP_001366342.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_001379414.1",
"protein_id": "NP_001366343.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_001379415.1",
"protein_id": "NP_001366344.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_001379416.1",
"protein_id": "NP_001366345.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_001379417.1",
"protein_id": "NP_001366346.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "NM_001379418.1",
"protein_id": "NP_001366347.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "ENST00000368870.6",
"protein_id": "ENSP00000357864.2",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "ENST00000392746.7",
"protein_id": "ENSP00000376502.3",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 595,
"cds_start": 415,
"cds_end": null,
"cds_length": 1790,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.295A>G",
"hgvs_p": "p.Ile99Val",
"transcript": "NM_001379419.1",
"protein_id": "NP_001366348.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 576,
"cds_start": 295,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.295A>G",
"hgvs_p": "p.Ile99Val",
"transcript": "NM_001379420.1",
"protein_id": "NP_001366349.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 576,
"cds_start": 295,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.91A>G",
"hgvs_p": "p.Ile31Val",
"transcript": "ENST00000436637.5",
"protein_id": "ENSP00000390769.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 235,
"cds_start": 91,
"cds_end": null,
"cds_length": 708,
"cdna_start": 91,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "ENST00000422595.5",
"protein_id": "ENSP00000399095.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 228,
"cds_start": 415,
"cds_end": null,
"cds_length": 689,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "ENST00000450506.5",
"protein_id": "ENSP00000398666.1",
"transcript_support_level": 3,
"aa_start": 139,
"aa_end": null,
"aa_length": 183,
"cds_start": 415,
"cds_end": null,
"cds_length": 553,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "ENST00000458484.5",
"protein_id": "ENSP00000409187.1",
"transcript_support_level": 3,
"aa_start": 139,
"aa_end": null,
"aa_length": 164,
"cds_start": 415,
"cds_end": null,
"cds_length": 496,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val",
"transcript": "XM_047426951.1",
"protein_id": "XP_047282907.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 616,
"cds_start": 415,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "n.254A>G",
"hgvs_p": null,
"transcript": "ENST00000469513.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "n.193A>G",
"hgvs_p": null,
"transcript": "ENST00000475144.1",
"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": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFX5",
"gene_hgnc_id": 9986,
"hgvs_c": "c.-99A>G",
"hgvs_p": null,
"transcript": "XM_024448791.2",
"protein_id": "XP_024304559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
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},
{
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}
],
"gene_symbol": "RFX5",
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"dbsnp": "rs1363432272",
"frequency_reference_population": 0.000003717297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342024,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5867489576339722,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.514,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6694,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.353,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000452671.7",
"gene_symbol": "RFX5",
"hgnc_id": 9986,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.415A>G",
"hgvs_p": "p.Ile139Val"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000811547.1",
"gene_symbol": "RFX5-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.530-3157T>C",
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}
],
"clinvar_disease": "MHC class II deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MHC class II deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}