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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: 12-42468705-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=42468705&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 42468705,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000345127.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "NM_153026.3",
"protein_id": "NP_694571.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "ENST00000345127.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000345127.9",
"protein_id": "ENSP00000345064.3",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "NM_153026.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "NM_001144881.2",
"protein_id": "NP_001138353.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "NM_001144882.2",
"protein_id": "NP_001138354.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "NM_001144883.2",
"protein_id": "NP_001138355.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000445766.7",
"protein_id": "ENSP00000398947.2",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000455697.6",
"protein_id": "ENSP00000401060.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000548696.6",
"protein_id": "ENSP00000448359.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000552240.6",
"protein_id": "ENSP00000449819.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000639566.1",
"protein_id": "ENSP00000492332.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000639589.1",
"protein_id": "ENSP00000491051.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000639958.1",
"protein_id": "ENSP00000492644.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000640055.1",
"protein_id": "ENSP00000492763.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "ENST00000640132.1",
"protein_id": "ENSP00000491228.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
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"cds_start": 509,
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"cdna_start": 854,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "XM_011537946.2",
"protein_id": "XP_011536248.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 5643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "XM_011537947.3",
"protein_id": "XP_011536249.1",
"transcript_support_level": null,
"aa_start": 170,
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"cdna_start": 836,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "XM_017018838.2",
"protein_id": "XP_016874327.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 5737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "XM_017018839.2",
"protein_id": "XP_016874328.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
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"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "XM_017018840.2",
"protein_id": "XP_016874329.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
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"cdna_start": 769,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "XM_047428327.1",
"protein_id": "XP_047284283.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
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"cdna_start": 3470,
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"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "XM_047428328.1",
"protein_id": "XP_047284284.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
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"cdna_start": 832,
"cdna_end": null,
"cdna_length": 5871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.509A>G",
"hgvs_p": "p.Tyr170Cys",
"transcript": "XM_047428329.1",
"protein_id": "XP_047284285.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 831,
"cds_start": 509,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 5759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
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}
],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"inheritance_mode": "AR,AD",
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],
"clinvar_disease": " 1B, progressive myoclonic,Epilepsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Epilepsy, progressive myoclonic, 1B",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}