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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: 1-222994871-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=222994871&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 222994871,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000675850.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "NM_001377229.1",
"protein_id": "NP_001364158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": "ENST00000675850.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "ENST00000675850.1",
"protein_id": "ENSP00000502357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": "NM_001377229.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "ENST00000284476.7",
"protein_id": "ENSP00000284476.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4762,
"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": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.3837T>C",
"hgvs_p": null,
"transcript": "ENST00000676303.1",
"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": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "NM_001369594.1",
"protein_id": "NP_001356523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "NM_001377228.1",
"protein_id": "NP_001364157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "NM_032890.5",
"protein_id": "NP_116279.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "ENST00000675961.1",
"protein_id": "ENSP00000501808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "ENST00000675039.1",
"protein_id": "ENSP00000501574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1523,
"cds_start": -4,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.161-14T>C",
"hgvs_p": null,
"transcript": "NM_001350630.2",
"protein_id": "NP_001337559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1281,
"cds_start": -4,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.308-14T>C",
"hgvs_p": null,
"transcript": "ENST00000495684.2",
"protein_id": "ENSP00000502067.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.*417-14T>C",
"hgvs_p": null,
"transcript": "ENST00000674709.1",
"protein_id": "ENSP00000502092.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4413,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.*246-14T>C",
"hgvs_p": null,
"transcript": "ENST00000674736.1",
"protein_id": "ENSP00000501873.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "n.*223-14T>C",
"hgvs_p": null,
"transcript": "ENST00000676139.1",
"protein_id": "ENSP00000502496.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "XM_006711592.3",
"protein_id": "XP_006711655.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "XM_011510072.3",
"protein_id": "XP_011508374.1",
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},
{
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],
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"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "DISP1",
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"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "XM_011510073.3",
"protein_id": "XP_011508375.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "XM_011510074.3",
"protein_id": "XP_011508376.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
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"hgvs_c": "c.890-14T>C",
"hgvs_p": null,
"transcript": "XM_011510075.3",
"protein_id": "XP_011508377.1",
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},
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],
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "DISP1",
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"hgvs_c": "c.890-14T>C",
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"transcript": "XM_017002611.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "DISP1",
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"hgvs_c": "c.890-14T>C",
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"transcript": "XM_047432763.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.308-14T>C",
"hgvs_p": null,
"transcript": "XM_006711594.4",
"protein_id": "XP_006711657.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.308-14T>C",
"hgvs_p": null,
"transcript": "XM_017002612.2",
"protein_id": "XP_016858101.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"hgvs_c": "c.308-14T>C",
"hgvs_p": null,
"transcript": "XM_047432774.1",
"protein_id": "XP_047288730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1330,
"cds_start": -4,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DISP1",
"gene_hgnc_id": 19711,
"dbsnp": "rs2609359",
"frequency_reference_population": 0.32173058,
"hom_count_reference_population": 84439,
"allele_count_reference_population": 505783,
"gnomad_exomes_af": 0.318585,
"gnomad_genomes_af": 0.351131,
"gnomad_exomes_ac": 452437,
"gnomad_genomes_ac": 53346,
"gnomad_exomes_homalt": 74706,
"gnomad_genomes_homalt": 9733,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.077,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000675850.1",
"gene_symbol": "DISP1",
"hgnc_id": 19711,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.890-14T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}