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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: 3-114339426-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=114339426&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 114339426,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001164342.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "NM_001348800.3",
"protein_id": "NP_001335729.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675478.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348800.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000675478.1",
"protein_id": "ENSP00000501561.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001348800.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675478.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000474710.6",
"protein_id": "ENSP00000419153.1",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474710.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Gly529Ala",
"transcript": "ENST00000357258.8",
"protein_id": "ENSP00000349803.3",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 668,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357258.8"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Gly529Ala",
"transcript": "ENST00000462705.5",
"protein_id": "ENSP00000420324.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 668,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462705.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Gly529Ala",
"transcript": "ENST00000464560.5",
"protein_id": "ENSP00000417307.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 668,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464560.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Gly529Ala",
"transcript": "ENST00000471418.5",
"protein_id": "ENSP00000419902.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 668,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471418.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Gly529Ala",
"transcript": "ENST00000481632.5",
"protein_id": "ENSP00000418092.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 668,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481632.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "NM_001164342.2",
"protein_id": "NP_001157814.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164342.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "NM_001348803.3",
"protein_id": "NP_001335732.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348803.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "NM_001393393.1",
"protein_id": "NP_001380322.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393393.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "NM_001393394.1",
"protein_id": "NP_001380323.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393394.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000676079.1",
"protein_id": "ENSP00000502480.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676079.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000704358.1",
"protein_id": "ENSP00000515869.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704358.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000895172.1",
"protein_id": "ENSP00000565231.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895172.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000895173.1",
"protein_id": "ENSP00000565232.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895173.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000895174.1",
"protein_id": "ENSP00000565233.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895174.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000895175.1",
"protein_id": "ENSP00000565234.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895175.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000895177.1",
"protein_id": "ENSP00000565236.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895177.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000895178.1",
"protein_id": "ENSP00000565237.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895178.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB20",
"gene_hgnc_id": 13503,
"hgvs_c": "c.1805G>C",
"hgvs_p": "p.Gly602Ala",
"transcript": "ENST00000895179.1",
"protein_id": "ENSP00000565238.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895179.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.5461525321006775,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.4,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9564,
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"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
"score": 9,
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"pathogenic_score": 9,
"criteria": [
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"PM2",
"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "Primrose syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Primrose syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}