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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: 19-35336135-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35336135&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35336135,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001771.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "NM_001771.4",
"protein_id": "NP_001762.2",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 847,
"cds_start": 512,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000085219.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001771.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000085219.10",
"protein_id": "ENSP00000085219.4",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 847,
"cds_start": 512,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001771.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000085219.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000536635.6",
"protein_id": "ENSP00000442279.1",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 759,
"cds_start": 512,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536635.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000544992.6",
"protein_id": "ENSP00000441237.1",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 751,
"cds_start": 512,
"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": "ENST00000544992.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000594250.5",
"protein_id": "ENSP00000469984.1",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 670,
"cds_start": 512,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594250.5"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.10-14C>T",
"hgvs_p": null,
"transcript": "ENST00000419549.6",
"protein_id": "ENSP00000403822.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419549.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000918678.1",
"protein_id": "ENSP00000588737.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 847,
"cds_start": 512,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918678.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000948629.1",
"protein_id": "ENSP00000618688.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 847,
"cds_start": 512,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948629.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "ENST00000884225.1",
"protein_id": "ENSP00000554284.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 845,
"cds_start": 506,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884225.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "ENST00000884226.1",
"protein_id": "ENSP00000554285.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 845,
"cds_start": 506,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884226.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "NM_001185099.2",
"protein_id": "NP_001172028.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 759,
"cds_start": 512,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185099.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "ENST00000884228.1",
"protein_id": "ENSP00000554287.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 756,
"cds_start": 506,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884228.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "NM_001185100.2",
"protein_id": "NP_001172029.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 751,
"cds_start": 512,
"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": "NM_001185100.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "NM_001185101.2",
"protein_id": "NP_001172030.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 670,
"cds_start": 512,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185101.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000341773.10",
"protein_id": "ENSP00000339349.6",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 670,
"cds_start": 512,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341773.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Pro169Leu",
"transcript": "ENST00000884227.1",
"protein_id": "ENSP00000554286.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 668,
"cds_start": 506,
"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": "ENST00000884227.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000593867.5",
"protein_id": "ENSP00000471972.1",
"transcript_support_level": 3,
"aa_start": 171,
"aa_end": null,
"aa_length": 224,
"cds_start": 512,
"cds_end": null,
"cds_length": 677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593867.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.83C>T",
"hgvs_p": "p.Pro28Leu",
"transcript": "ENST00000613136.1",
"protein_id": "ENSP00000482823.1",
"transcript_support_level": 6,
"aa_start": 28,
"aa_end": null,
"aa_length": 153,
"cds_start": 83,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613136.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.10-14C>T",
"hgvs_p": null,
"transcript": "NM_001278417.2",
"protein_id": "NP_001265346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278417.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.412+3211C>T",
"hgvs_p": null,
"transcript": "ENST00000599811.5",
"protein_id": "ENSP00000469523.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599811.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "c.406+3211C>T",
"hgvs_p": null,
"transcript": "ENST00000600424.5",
"protein_id": "ENSP00000471399.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600424.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD22",
"gene_hgnc_id": 1643,
"hgvs_c": "n.1050C>T",
"hgvs_p": null,
"transcript": "ENST00000596492.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596492.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001771.4",
"gene_symbol": "CD22",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}