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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: 2-201185826-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201185826&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201185826,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032977.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "NM_032977.4",
"protein_id": "NP_116759.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 522,
"cds_start": 49,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": "ENST00000286186.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032977.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000286186.11",
"protein_id": "ENSP00000286186.6",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 522,
"cds_start": 49,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": "NM_032977.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286186.11"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000448480.1",
"protein_id": "ENSP00000396835.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 478,
"cds_start": 49,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448480.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000313728.12",
"protein_id": "ENSP00000314599.7",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 455,
"cds_start": 49,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313728.12"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000374650.8",
"protein_id": "ENSP00000363781.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 247,
"cds_start": 49,
"cds_end": null,
"cds_length": 744,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374650.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.253A>G",
"hgvs_p": null,
"transcript": "ENST00000460140.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460140.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "NM_032974.5",
"protein_id": "NP_116756.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 521,
"cds_start": 49,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032974.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000272879.9",
"protein_id": "ENSP00000272879.5",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 521,
"cds_start": 49,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272879.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000888473.1",
"protein_id": "ENSP00000558532.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 521,
"cds_start": 49,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888473.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "NM_001230.5",
"protein_id": "NP_001221.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 479,
"cds_start": 49,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001230.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000346817.10",
"protein_id": "ENSP00000237865.7",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 479,
"cds_start": 49,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346817.10"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000888474.1",
"protein_id": "ENSP00000558533.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 479,
"cds_start": 49,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888474.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "NM_001206542.2",
"protein_id": "NP_001193471.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 478,
"cds_start": 49,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206542.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000964672.1",
"protein_id": "ENSP00000634731.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 474,
"cds_start": 49,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964672.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "NM_001206524.2",
"protein_id": "NP_001193453.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 455,
"cds_start": 49,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 5467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206524.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000918539.1",
"protein_id": "ENSP00000588598.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 454,
"cds_start": 49,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918539.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000471191.2",
"protein_id": "ENSP00000512475.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 276,
"cds_start": 49,
"cds_end": null,
"cds_length": 831,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471191.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "NM_032976.4",
"protein_id": "NP_116758.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 273,
"cds_start": 49,
"cds_end": null,
"cds_length": 822,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 5576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032976.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "NM_001306083.2",
"protein_id": "NP_001293012.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 247,
"cds_start": 49,
"cds_end": null,
"cds_length": 744,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306083.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "ENST00000696199.1",
"protein_id": "ENSP00000512481.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 243,
"cds_start": 49,
"cds_end": null,
"cds_length": 732,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696199.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Lys17Glu",
"transcript": "XM_005246907.3",
"protein_id": "XP_005246964.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 521,
"cds_start": 49,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246907.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.49A>G",
"hgvs_p": null,
"transcript": "ENST00000438843.6",
"protein_id": "ENSP00000401914.1",
"transcript_support_level": 2,
"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": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000438843.6"
},
{
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Benign",
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"effects": [
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "Autoimmune lymphoproliferative syndrome type 2A",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}