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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: 9-90854337-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=90854337&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 90854337,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_003177.7",
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "NM_003177.7",
"protein_id": "NP_003168.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375754.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003177.7"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000375754.9",
"protein_id": "ENSP00000364907.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003177.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375754.9"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000375746.1",
"protein_id": "ENSP00000364898.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375746.1"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000375747.5",
"protein_id": "ENSP00000364899.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": null,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375747.5"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000375751.8",
"protein_id": "ENSP00000364904.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": null,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375751.8"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7851G>A",
"hgvs_p": null,
"transcript": "ENST00000865878.1",
"protein_id": "ENSP00000535937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865878.1"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "NM_001174167.3",
"protein_id": "NP_001167638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174167.3"
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000865873.1",
"protein_id": "ENSP00000535932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865873.1"
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000865875.1",
"protein_id": "ENSP00000535934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865875.1"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000865876.1",
"protein_id": "ENSP00000535935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
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"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865876.1"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000865877.1",
"protein_id": "ENSP00000535936.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865877.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
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"gene_symbol": "SYK",
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"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000970483.1",
"protein_id": "ENSP00000640542.1",
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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": "ENST00000970483.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYK",
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"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000970484.1",
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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": "ENST00000970484.1"
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 13,
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"gene_symbol": "SYK",
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"hgvs_c": "c.579-7869G>A",
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"transcript": "NM_001135052.4",
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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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "NM_001174168.3",
"protein_id": "NP_001167639.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174168.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
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"gene_symbol": "SYK",
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"hgvs_c": "c.579-7869G>A",
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"transcript": "ENST00000865872.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000865874.1",
"protein_id": "ENSP00000535933.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "ENST00000865874.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "ENST00000865879.1",
"protein_id": "ENSP00000535938.1",
"transcript_support_level": null,
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "SYK",
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"hgvs_c": "c.579-7869G>A",
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},
{
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"strand": true,
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],
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"intron_rank": 3,
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"gene_symbol": "SYK",
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"hgvs_c": "c.579-7869G>A",
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"transcript": "XM_005252147.5",
"protein_id": "XP_005252204.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "SYK",
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"hgvs_c": "c.579-7869G>A",
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"transcript": "XM_011518946.4",
"protein_id": "XP_011517248.1",
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"biotype": "protein_coding",
"feature": "XM_011518946.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.579-7869G>A",
"hgvs_p": null,
"transcript": "XM_047423809.1",
"protein_id": "XP_047279765.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423809.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
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{
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],
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"gnomad_genomes_ac": 23904,
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"gnomad_genomes_homalt": 2049,
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"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.345,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003177.7",
"gene_symbol": "SYK",
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"effects": [
"intron_variant"
],
"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
}