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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: 19-43652290-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43652290&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43652290,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002659.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.Glu230Gly",
"transcript": "NM_002659.4",
"protein_id": "NP_002650.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 335,
"cds_start": 689,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340093.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002659.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.Glu230Gly",
"transcript": "ENST00000340093.8",
"protein_id": "ENSP00000339328.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 335,
"cds_start": 689,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002659.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340093.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Glu185Gly",
"transcript": "ENST00000221264.8",
"protein_id": "ENSP00000221264.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 290,
"cds_start": 554,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221264.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.Glu230Gly",
"transcript": "ENST00000339082.7",
"protein_id": "ENSP00000342049.2",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 281,
"cds_start": 689,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339082.7"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.608-3147A>G",
"hgvs_p": null,
"transcript": "ENST00000601723.5",
"protein_id": "ENSP00000471881.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601723.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Glu235Gly",
"transcript": "ENST00000947455.1",
"protein_id": "ENSP00000617514.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 340,
"cds_start": 704,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947455.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Glu229Gly",
"transcript": "ENST00000856984.1",
"protein_id": "ENSP00000527043.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 334,
"cds_start": 686,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856984.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Glu228Gly",
"transcript": "ENST00000947452.1",
"protein_id": "ENSP00000617511.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 333,
"cds_start": 683,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947452.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Glu227Gly",
"transcript": "ENST00000947454.1",
"protein_id": "ENSP00000617513.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 332,
"cds_start": 680,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947454.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Glu190Gly",
"transcript": "ENST00000947453.1",
"protein_id": "ENSP00000617512.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 295,
"cds_start": 569,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947453.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Glu185Gly",
"transcript": "NM_001005377.3",
"protein_id": "NP_001005377.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 290,
"cds_start": 554,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005377.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.Glu230Gly",
"transcript": "NM_001005376.3",
"protein_id": "NP_001005376.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 281,
"cds_start": 689,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005376.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Glu131Gly",
"transcript": "ENST00000947456.1",
"protein_id": "ENSP00000617515.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 236,
"cds_start": 392,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947456.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.614A>G",
"hgvs_p": "p.Glu205Gly",
"transcript": "ENST00000599892.5",
"protein_id": "ENSP00000470029.1",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 225,
"cds_start": 614,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599892.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.Glu163Gly",
"transcript": "ENST00000593714.5",
"protein_id": "ENSP00000471525.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 183,
"cds_start": 488,
"cds_end": null,
"cds_length": 553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593714.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.311A>G",
"hgvs_p": "p.Glu104Gly",
"transcript": "ENST00000595038.5",
"protein_id": "ENSP00000473055.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 153,
"cds_start": 311,
"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": "ENST00000595038.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Glu118Gly",
"transcript": "ENST00000593447.5",
"protein_id": "ENSP00000470050.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 132,
"cds_start": 353,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593447.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.Glu230Gly",
"transcript": "XM_047438925.1",
"protein_id": "XP_047294881.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 335,
"cds_start": 689,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438925.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.674A>G",
"hgvs_p": "p.Glu225Gly",
"transcript": "XM_017026872.3",
"protein_id": "XP_016882361.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 330,
"cds_start": 674,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026872.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Glu185Gly",
"transcript": "XM_047438926.1",
"protein_id": "XP_047294882.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 290,
"cds_start": 554,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438926.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.545A>G",
"hgvs_p": "p.Glu182Gly",
"transcript": "XM_047438927.1",
"protein_id": "XP_047294883.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 287,
"cds_start": 545,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438927.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.539A>G",
"hgvs_p": "p.Glu180Gly",
"transcript": "XM_047438929.1",
"protein_id": "XP_047294885.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 285,
"cds_start": 539,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438929.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
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{
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"BP4_Moderate"
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{
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],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}