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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-53192837-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53192837&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53192837,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001146702.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "NM_004187.5",
"protein_id": "NP_004178.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": null,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375401.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004187.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000375401.8",
"protein_id": "ENSP00000364550.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": null,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004187.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375401.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000404049.7",
"protein_id": "ENSP00000385394.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": null,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404049.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4047C>G",
"hgvs_p": "p.Ile1349Met",
"transcript": "NM_001146702.2",
"protein_id": "NP_001140174.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1379,
"cds_start": 4047,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146702.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4047C>G",
"hgvs_p": "p.Ile1349Met",
"transcript": "ENST00000452825.7",
"protein_id": "ENSP00000445176.1",
"transcript_support_level": 5,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1379,
"cds_start": 4047,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452825.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000935430.1",
"protein_id": "ENSP00000605489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1594,
"cds_start": null,
"cds_end": null,
"cds_length": 4785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "NM_001282622.3",
"protein_id": "NP_001269551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": null,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282622.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "NM_001353978.3",
"protein_id": "NP_001340907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1557,
"cds_start": null,
"cds_end": null,
"cds_length": 4674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353978.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000861450.1",
"protein_id": "ENSP00000531509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1556,
"cds_start": null,
"cds_end": null,
"cds_length": 4671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000861452.1",
"protein_id": "ENSP00000531511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": null,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000935431.1",
"protein_id": "ENSP00000605490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1534,
"cds_start": null,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000861453.1",
"protein_id": "ENSP00000531512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1533,
"cds_start": null,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000861454.1",
"protein_id": "ENSP00000531513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1531,
"cds_start": null,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.*130C>G",
"hgvs_p": null,
"transcript": "ENST00000861451.1",
"protein_id": "ENSP00000531510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1530,
"cds_start": null,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4314+600C>G",
"hgvs_p": null,
"transcript": "NM_001353979.2",
"protein_id": "NP_001340908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1451,
"cds_start": null,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353979.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4309-351C>G",
"hgvs_p": null,
"transcript": "ENST00000691505.1",
"protein_id": "ENSP00000510354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1450,
"cds_start": null,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691505.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4308+600C>G",
"hgvs_p": null,
"transcript": "NM_001353981.2",
"protein_id": "NP_001340910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": null,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353981.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4308+600C>G",
"hgvs_p": null,
"transcript": "ENST00000685641.2",
"protein_id": "ENSP00000509818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685641.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4305+600C>G",
"hgvs_p": null,
"transcript": "NM_001353982.2",
"protein_id": "NP_001340911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353982.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4308+600C>G",
"hgvs_p": null,
"transcript": "NM_001353984.2",
"protein_id": "NP_001340913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1444,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353984.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.4308+600C>G",
"hgvs_p": null,
"transcript": "ENST00000688699.1",
"protein_id": "ENSP00000510430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1444,
"cds_start": null,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"hgvs_c": "c.3813+600C>G",
"hgvs_p": null,
"transcript": "ENST00000693277.1",
"protein_id": "ENSP00000510522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": null,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693277.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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{
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"feature": "ENST00000687695.1"
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{
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],
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"biotype": "pseudogene",
"feature": "NR_148672.2"
},
{
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"intron_variant"
],
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"feature": "NR_148673.2"
},
{
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"intron_variant"
],
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"feature": "NR_148674.2"
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{
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"downstream_gene_variant"
],
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"transcript": "ENST00000375379.7",
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"biotype": "protein_coding",
"feature": "ENST00000375379.7"
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{
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"downstream_gene_variant"
],
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"exon_count": 25,
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"gene_symbol": "KDM5C",
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"hgvs_c": "c.*130C>G",
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"transcript": "ENST00000375383.7",
"protein_id": "ENSP00000364532.3",
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"cds_start": null,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375383.7"
}
],
"gene_symbol": "KDM5C",
"gene_hgnc_id": 11114,
"dbsnp": "rs782201442",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4278947710990906,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.06199999898672104,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2595,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.601,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000642112240693993,
"dbscsnv_ada_prediction": "Benign",
"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": "NM_001146702.2",
"gene_symbol": "KDM5C",
"hgnc_id": 11114,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.4047C>G",
"hgvs_p": "p.Ile1349Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}