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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: X-48509869-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48509869&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48509869,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001441333.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "NM_203475.3",
"protein_id": "NP_982301.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": "ENST00000326194.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203475.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000326194.11",
"protein_id": "ENSP00000322304.6",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": "NM_203475.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326194.11"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000355961.8",
"protein_id": "ENSP00000348233.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 456,
"cds_start": 49,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355961.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000367574.9",
"protein_id": "ENSP00000356546.6",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 450,
"cds_start": 49,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367574.9"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000537758.6",
"protein_id": "ENSP00000446401.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 450,
"cds_start": 49,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537758.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.388T>C",
"hgvs_p": "p.Cys130Arg",
"transcript": "NM_001441333.1",
"protein_id": "NP_001428262.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 569,
"cds_start": 388,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441333.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.388T>C",
"hgvs_p": "p.Cys130Arg",
"transcript": "NM_001441334.1",
"protein_id": "NP_001428263.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 563,
"cds_start": 388,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441334.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Cys52Arg",
"transcript": "NM_001441335.1",
"protein_id": "NP_001428264.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 485,
"cds_start": 154,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441335.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965635.1",
"protein_id": "ENSP00000635694.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965635.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965636.1",
"protein_id": "ENSP00000635695.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965636.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965639.1",
"protein_id": "ENSP00000635698.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965639.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965640.1",
"protein_id": "ENSP00000635699.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965640.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965643.1",
"protein_id": "ENSP00000635702.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965643.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965644.1",
"protein_id": "ENSP00000635703.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965644.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965647.1",
"protein_id": "ENSP00000635706.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 461,
"cds_start": 49,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965647.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "NM_203473.3",
"protein_id": "NP_982299.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 456,
"cds_start": 49,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203473.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000916265.1",
"protein_id": "ENSP00000586324.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 456,
"cds_start": 49,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916265.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965641.1",
"protein_id": "ENSP00000635700.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 456,
"cds_start": 49,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965641.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000965645.1",
"protein_id": "ENSP00000635704.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 456,
"cds_start": 49,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965645.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "NM_203474.1",
"protein_id": "NP_982300.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 455,
"cds_start": 49,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203474.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "ENST00000359882.8",
"protein_id": "ENSP00000352946.4",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 455,
"cds_start": 49,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359882.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PORCN",
"gene_hgnc_id": 17652,
"hgvs_c": "c.49T>C",
"hgvs_p": "p.Cys17Arg",
"transcript": "NM_022825.4",
"protein_id": "NP_073736.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 450,
"cds_start": 49,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022825.4"
},
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"splice_prediction_selected": "Benign",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}