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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: 1-26794800-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26794800&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 26794800,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000674202.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "NM_017837.4",
"protein_id": "NP_060307.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": "ENST00000674202.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000674202.1",
"protein_id": "ENSP00000501479.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": "NM_017837.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000078527.9",
"protein_id": "ENSP00000078527.4",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000686325.1",
"protein_id": "ENSP00000509836.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 506,
"cds_start": 766,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000431541.6",
"protein_id": "ENSP00000388425.2",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 503,
"cds_start": 766,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 4960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000687468.1",
"protein_id": "ENSP00000510051.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 503,
"cds_start": 766,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "NM_001202554.2",
"protein_id": "NP_001189483.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "NM_001374478.1",
"protein_id": "NP_001361407.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "NM_001374480.1",
"protein_id": "NP_001361409.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "NM_001374481.1",
"protein_id": "NP_001361410.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "NM_001374482.1",
"protein_id": "NP_001361411.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000374145.6",
"protein_id": "ENSP00000363260.1",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000455364.2",
"protein_id": "ENSP00000406080.2",
"transcript_support_level": 3,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000674222.1",
"protein_id": "ENSP00000501335.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000674273.1",
"protein_id": "ENSP00000501527.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000688522.1",
"protein_id": "ENSP00000508665.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000691135.1",
"protein_id": "ENSP00000510357.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 766,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 3604,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Gln256Lys",
"transcript": "ENST00000691454.1",
"protein_id": "ENSP00000509275.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 409,
"cds_start": 766,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Gln129Lys",
"transcript": "NM_001374483.1",
"protein_id": "NP_001361412.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 366,
"cds_start": 385,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Gln129Lys",
"transcript": "ENST00000674335.1",
"protein_id": "ENSP00000501446.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 366,
"cds_start": 385,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Gln129Lys",
"transcript": "ENST00000688730.1",
"protein_id": "ENSP00000508720.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 366,
"cds_start": 385,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
"gene_hgnc_id": 26031,
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Gln129Lys",
"transcript": "ENST00000689130.1",
"protein_id": "ENSP00000509671.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 283,
"cds_start": 385,
"cds_end": null,
"cds_length": 852,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1797,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGV",
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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{
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"PP5"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Hyperphosphatasia with intellectual disability syndrome 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hyperphosphatasia with intellectual disability syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}