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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: 7-148808972-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148808972&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 148808972,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_004456.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2195+99T>G",
"hgvs_p": null,
"transcript": "NM_004456.5",
"protein_id": "NP_004447.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320356.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004456.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2195+99T>G",
"hgvs_p": null,
"transcript": "ENST00000320356.7",
"protein_id": "ENSP00000320147.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004456.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320356.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2180+99T>G",
"hgvs_p": null,
"transcript": "ENST00000460911.5",
"protein_id": "ENSP00000419711.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460911.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2063+99T>G",
"hgvs_p": null,
"transcript": "ENST00000350995.6",
"protein_id": "ENSP00000223193.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350995.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2201+99T>G",
"hgvs_p": null,
"transcript": "ENST00000893365.1",
"protein_id": "ENSP00000563424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": null,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2195+99T>G",
"hgvs_p": null,
"transcript": "ENST00000893367.1",
"protein_id": "ENSP00000563426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2195+99T>G",
"hgvs_p": null,
"transcript": "ENST00000931956.1",
"protein_id": "ENSP00000602015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 751,
"cds_start": null,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2180+99T>G",
"hgvs_p": null,
"transcript": "NM_001203247.2",
"protein_id": "NP_001190176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001203247.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2180+99T>G",
"hgvs_p": null,
"transcript": "ENST00000931959.1",
"protein_id": "ENSP00000602018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2180+99T>G",
"hgvs_p": null,
"transcript": "ENST00000931961.1",
"protein_id": "ENSP00000602020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 746,
"cds_start": null,
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"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931961.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2168+99T>G",
"hgvs_p": null,
"transcript": "ENST00000893366.1",
"protein_id": "ENSP00000563425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
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"cds_length": 2229,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893366.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2153+99T>G",
"hgvs_p": null,
"transcript": "NM_001203248.2",
"protein_id": "NP_001190177.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 737,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001203248.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2153+99T>G",
"hgvs_p": null,
"transcript": "ENST00000483967.5",
"protein_id": "ENSP00000419856.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000483967.5"
},
{
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"protein_coding": true,
"strand": false,
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],
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"gene_symbol": "EZH2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
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"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2084+99T>G",
"hgvs_p": null,
"transcript": "ENST00000931951.1",
"protein_id": "ENSP00000602010.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "ENST00000931951.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
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"gene_symbol": "EZH2",
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"transcript": "ENST00000931950.1",
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"feature": "ENST00000931950.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 18,
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"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2069+99T>G",
"hgvs_p": null,
"transcript": "ENST00000931957.1",
"protein_id": "ENSP00000602016.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000931957.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2063+99T>G",
"hgvs_p": null,
"transcript": "NM_152998.3",
"protein_id": "NP_694543.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "NM_152998.3"
},
{
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"consequences": [
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],
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"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2063+99T>G",
"hgvs_p": null,
"transcript": "ENST00000893368.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EZH2",
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"hgvs_c": "c.2054+99T>G",
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"transcript": "ENST00000931954.1",
"protein_id": "ENSP00000602013.1",
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"feature": "ENST00000931954.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 18,
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"gene_symbol": "EZH2",
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"hgvs_c": "c.2051+99T>G",
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"transcript": "ENST00000931952.1",
"protein_id": "ENSP00000602011.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000931952.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2036+99T>G",
"hgvs_p": null,
"transcript": "ENST00000893364.1",
"protein_id": "ENSP00000563423.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 698,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893364.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
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{
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{
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{
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],
"gene_symbol": "EZH2",
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"dbsnp": "rs740949",
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.0000065741,
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"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.094,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004456.5",
"gene_symbol": "EZH2",
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"effects": [
"intron_variant"
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"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}