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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: 1-223005219-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223005219&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 223005219,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000675850.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "NM_001377229.1",
"protein_id": "NP_001364158.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4020,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": "ENST00000675850.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "ENST00000675850.1",
"protein_id": "ENSP00000502357.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4020,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": "NM_001377229.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "ENST00000284476.7",
"protein_id": "ENSP00000284476.6",
"transcript_support_level": 1,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3986,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "NM_001369594.1",
"protein_id": "NP_001356523.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3986,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "NM_001377228.1",
"protein_id": "NP_001364157.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3930,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "NM_032890.5",
"protein_id": "NP_116279.2",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4198,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "ENST00000675961.1",
"protein_id": "ENSP00000501808.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4082,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "ENST00000675039.1",
"protein_id": "ENSP00000501574.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1523,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 3941,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3093A>G",
"hgvs_p": "p.Pro1031Pro",
"transcript": "NM_001350630.2",
"protein_id": "NP_001337559.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 4215,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "XM_006711592.3",
"protein_id": "XP_006711655.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4067,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "XM_011510072.3",
"protein_id": "XP_011508374.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3992,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "XM_011510073.3",
"protein_id": "XP_011508375.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3941,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "XM_011510074.3",
"protein_id": "XP_011508376.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4020,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "XM_011510075.3",
"protein_id": "XP_011508377.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3969,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "XM_017002611.2",
"protein_id": "XP_016858100.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 3879,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro",
"transcript": "XM_047432763.1",
"protein_id": "XP_047288719.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1524,
"cds_start": 3822,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4000,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3240A>G",
"hgvs_p": "p.Pro1080Pro",
"transcript": "XM_006711594.4",
"protein_id": "XP_006711657.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3240,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 4102,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3240A>G",
"hgvs_p": "p.Pro1080Pro",
"transcript": "XM_017002612.2",
"protein_id": "XP_016858101.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3240,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 4271,
"cdna_end": null,
"cdna_length": 5047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.3240A>G",
"hgvs_p": "p.Pro1080Pro",
"transcript": "XM_047432774.1",
"protein_id": "XP_047288730.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3240,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 4008,
"cdna_end": null,
"cdna_length": 4784,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.*3349A>G",
"hgvs_p": null,
"transcript": "ENST00000674709.1",
"protein_id": "ENSP00000502092.1",
"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": 4413,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.*3178A>G",
"hgvs_p": null,
"transcript": "ENST00000674736.1",
"protein_id": "ENSP00000501873.1",
"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": 4282,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.*3155A>G",
"hgvs_p": null,
"transcript": "ENST00000676139.1",
"protein_id": "ENSP00000502496.1",
"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": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.*3349A>G",
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},
{
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},
{
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}
],
"gene_symbol": "DISP1",
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"dbsnp": "rs9441941",
"frequency_reference_population": 6.8407127e-7,
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"gnomad_exomes_af": 6.84071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.9,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -3,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000675850.1",
"gene_symbol": "DISP1",
"hgnc_id": 19711,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.3822A>G",
"hgvs_p": "p.Pro1274Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}