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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-53199068-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53199068&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53199068,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000375401.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "NM_004187.5",
"protein_id": "NP_004178.2",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1560,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 5810,
"mane_select": "ENST00000375401.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "ENST00000375401.8",
"protein_id": "ENSP00000364550.4",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 1560,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 5810,
"mane_select": "NM_004187.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2149G>T",
"hgvs_p": "p.Ala717Ser",
"transcript": "ENST00000404049.7",
"protein_id": "ENSP00000385394.3",
"transcript_support_level": 1,
"aa_start": 717,
"aa_end": null,
"aa_length": 1559,
"cds_start": 2149,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2149G>T",
"hgvs_p": "p.Ala717Ser",
"transcript": "NM_001282622.3",
"protein_id": "NP_001269551.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1559,
"cds_start": 2149,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "NM_001353978.3",
"protein_id": "NP_001340907.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1557,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 5801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "ENST00000375379.7",
"protein_id": "ENSP00000364528.3",
"transcript_support_level": 5,
"aa_start": 718,
"aa_end": null,
"aa_length": 1557,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 2685,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000375383.7",
"protein_id": "ENSP00000364532.3",
"transcript_support_level": 5,
"aa_start": 677,
"aa_end": null,
"aa_length": 1516,
"cds_start": 2029,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2149G>T",
"hgvs_p": "p.Ala717Ser",
"transcript": "NM_001353979.2",
"protein_id": "NP_001340908.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2149,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "ENST00000691505.1",
"protein_id": "ENSP00000510354.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1450,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "NM_001353981.2",
"protein_id": "NP_001340910.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1449,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "ENST00000685641.2",
"protein_id": "ENSP00000509818.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1449,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 4989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2149G>T",
"hgvs_p": "p.Ala717Ser",
"transcript": "NM_001353982.2",
"protein_id": "NP_001340911.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1448,
"cds_start": 2149,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "NM_001353984.2",
"protein_id": "NP_001340913.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1444,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "ENST00000688699.1",
"protein_id": "ENSP00000510430.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1444,
"cds_start": 2152,
"cds_end": null,
"cds_length": 4335,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.1951G>T",
"hgvs_p": "p.Ala651Ser",
"transcript": "NM_001146702.2",
"protein_id": "NP_001140174.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1379,
"cds_start": 1951,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.1951G>T",
"hgvs_p": "p.Ala651Ser",
"transcript": "ENST00000452825.7",
"protein_id": "ENSP00000445176.1",
"transcript_support_level": 5,
"aa_start": 651,
"aa_end": null,
"aa_length": 1379,
"cds_start": 1951,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 6096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.1657G>T",
"hgvs_p": "p.Ala553Ser",
"transcript": "ENST00000693277.1",
"protein_id": "ENSP00000510522.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1657,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 4512,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.913G>T",
"hgvs_p": null,
"transcript": "ENST00000497100.5",
"protein_id": null,
"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": 1403,
"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": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2152G>T",
"hgvs_p": null,
"transcript": "ENST00000685423.1",
"protein_id": "ENSP00000508806.1",
"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": 4749,
"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": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2149G>T",
"hgvs_p": null,
"transcript": "ENST00000687695.1",
"protein_id": "ENSP00000508631.1",
"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": 5061,
"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": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2470G>T",
"hgvs_p": null,
"transcript": "NR_148672.2",
"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": 5063,
"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": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2467G>T",
"hgvs_p": null,
"transcript": "NR_148673.2",
"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": 5051,
"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": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "n.2347G>T",
"hgvs_p": null,
"transcript": "NR_148674.2",
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{
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],
"gene_symbol": "KDM5C",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.836529016494751,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.821,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5646,
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"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.821,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3",
"acmg_by_gene": [
{
"score": 7,
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"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000375401.8",
"gene_symbol": "KDM5C",
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"effects": [
"missense_variant"
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"inheritance_mode": "XL",
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser"
},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_106954.1",
"gene_symbol": "MIR6894",
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"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-123G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}