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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: 9-37002705-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37002705&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37002705,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000358127.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "NM_016734.3",
"protein_id": "NP_057953.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 391,
"cds_start": 547,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8704,
"mane_select": "ENST00000358127.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "ENST00000358127.9",
"protein_id": "ENSP00000350844.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 391,
"cds_start": 547,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8704,
"mane_select": "NM_016734.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "ENST00000377853.6",
"protein_id": "ENSP00000367084.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 362,
"cds_start": 547,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "ENST00000377852.7",
"protein_id": "ENSP00000367083.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 357,
"cds_start": 547,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "ENST00000377847.6",
"protein_id": "ENSP00000367078.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 328,
"cds_start": 547,
"cds_end": null,
"cds_length": 987,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "ENST00000523241.6",
"protein_id": "ENSP00000429637.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 324,
"cds_start": 547,
"cds_end": null,
"cds_length": 975,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "ENST00000520154.6",
"protein_id": "ENSP00000429291.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 295,
"cds_start": 547,
"cds_end": null,
"cds_length": 888,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "ENST00000446742.5",
"protein_id": "ENSP00000404687.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 291,
"cds_start": 349,
"cds_end": null,
"cds_length": 876,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000522003.5",
"protein_id": "ENSP00000429359.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 283,
"cds_start": 223,
"cds_end": null,
"cds_length": 852,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000523145.5",
"protein_id": "ENSP00000429197.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 220,
"cds_start": 223,
"cds_end": null,
"cds_length": 663,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.46G>A",
"hgvs_p": "p.Gly16Ser",
"transcript": "ENST00000522932.1",
"protein_id": "ENSP00000428670.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 59,
"cds_start": 46,
"cds_end": null,
"cds_length": 180,
"cdna_start": 48,
"cdna_end": null,
"cdna_length": 184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.547G>A",
"hgvs_p": null,
"transcript": "ENST00000377840.6",
"protein_id": "ENSP00000367071.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.547G>A",
"hgvs_p": null,
"transcript": "ENST00000523493.5",
"protein_id": "ENSP00000431038.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.475+3768G>A",
"hgvs_p": null,
"transcript": "ENST00000414447.5",
"protein_id": "ENSP00000412188.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.475+3768G>A",
"hgvs_p": null,
"transcript": "ENST00000520281.5",
"protein_id": "ENSP00000430773.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "NM_001280548.2",
"protein_id": "NP_001267477.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 362,
"cds_start": 547,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "NM_001280547.2",
"protein_id": "NP_001267476.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 357,
"cds_start": 547,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "NM_001280552.2",
"protein_id": "NP_001267481.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 328,
"cds_start": 547,
"cds_end": null,
"cds_length": 987,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "NM_001280549.2",
"protein_id": "NP_001267478.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 324,
"cds_start": 547,
"cds_end": null,
"cds_length": 975,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Gly183Ser",
"transcript": "NM_001280550.2",
"protein_id": "NP_001267479.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 295,
"cds_start": 547,
"cds_end": null,
"cds_length": 888,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 8385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Gly117Ser",
"transcript": "NM_001280555.2",
"protein_id": "NP_001267484.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 291,
"cds_start": 349,
"cds_end": null,
"cds_length": 876,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 8404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "NM_001280556.2",
"protein_id": "NP_001267485.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 283,
"cds_start": 223,
"cds_end": null,
"cds_length": 852,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 8538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Gly75Ser",
"transcript": "ENST00000651550.1",
"protein_id": "ENSP00000498443.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 283,
"cds_start": 223,
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],
"clinvar_disease": " 3, acute lymphoblastic, susceptibility to,Leukemia",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Leukemia, acute lymphoblastic, susceptibility to, 3",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}