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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: 10-59247701-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=59247701&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 59247701,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198215.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1671T>G",
"hgvs_p": "p.Asp557Glu",
"transcript": "NM_198215.4",
"protein_id": "NP_937858.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 585,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618804.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198215.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1671T>G",
"hgvs_p": "p.Asp557Glu",
"transcript": "ENST00000618804.5",
"protein_id": "ENSP00000481854.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 585,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198215.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618804.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1377T>G",
"hgvs_p": "p.Asp459Glu",
"transcript": "ENST00000611933.4",
"protein_id": "ENSP00000481830.1",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 487,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611933.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.*2110A>C",
"hgvs_p": null,
"transcript": "NM_032439.4",
"protein_id": "NP_115815.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373880.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032439.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.*2110A>C",
"hgvs_p": null,
"transcript": "ENST00000373880.9",
"protein_id": "ENSP00000362987.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032439.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373880.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHIPL",
"gene_hgnc_id": 29378,
"hgvs_c": "c.*2110A>C",
"hgvs_p": null,
"transcript": "ENST00000373878.3",
"protein_id": "ENSP00000362985.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373878.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1737T>G",
"hgvs_p": "p.Asp579Glu",
"transcript": "ENST00000951024.1",
"protein_id": "ENSP00000621083.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 607,
"cds_start": 1737,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951024.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1734T>G",
"hgvs_p": "p.Asp578Glu",
"transcript": "ENST00000614220.4",
"protein_id": "ENSP00000483510.1",
"transcript_support_level": 5,
"aa_start": 578,
"aa_end": null,
"aa_length": 606,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614220.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1731T>G",
"hgvs_p": "p.Asp577Glu",
"transcript": "ENST00000621119.4",
"protein_id": "ENSP00000484625.1",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 605,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621119.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1683T>G",
"hgvs_p": "p.Asp561Glu",
"transcript": "ENST00000951023.1",
"protein_id": "ENSP00000621082.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 589,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951023.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1422T>G",
"hgvs_p": "p.Asp474Glu",
"transcript": "NM_001143773.1",
"protein_id": "NP_001137245.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 502,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143773.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1422T>G",
"hgvs_p": "p.Asp474Glu",
"transcript": "NM_001347840.2",
"protein_id": "NP_001334769.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 502,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347840.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1422T>G",
"hgvs_p": "p.Asp474Glu",
"transcript": "NM_001347847.1",
"protein_id": "NP_001334776.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 502,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347847.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1422T>G",
"hgvs_p": "p.Asp474Glu",
"transcript": "ENST00000468840.6",
"protein_id": "ENSP00000423896.1",
"transcript_support_level": 2,
"aa_start": 474,
"aa_end": null,
"aa_length": 502,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468840.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1419T>G",
"hgvs_p": "p.Asp473Glu",
"transcript": "NM_001166698.2",
"protein_id": "NP_001160170.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 501,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166698.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1419T>G",
"hgvs_p": "p.Asp473Glu",
"transcript": "NM_001347842.2",
"protein_id": "NP_001334771.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 501,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347842.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1419T>G",
"hgvs_p": "p.Asp473Glu",
"transcript": "NM_001347844.1",
"protein_id": "NP_001334773.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 501,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347844.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1419T>G",
"hgvs_p": "p.Asp473Glu",
"transcript": "ENST00000618427.4",
"protein_id": "ENSP00000480677.1",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 501,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618427.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1392T>G",
"hgvs_p": "p.Asp464Glu",
"transcript": "NM_001347848.1",
"protein_id": "NP_001334777.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 492,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347848.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1392T>G",
"hgvs_p": "p.Asp464Glu",
"transcript": "NM_001347850.2",
"protein_id": "NP_001334779.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 492,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347850.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1377T>G",
"hgvs_p": "p.Asp459Glu",
"transcript": "NM_001001971.3",
"protein_id": "NP_001001971.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 487,
"cds_start": 1377,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001971.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1374T>G",
"hgvs_p": "p.Asp458Glu",
"transcript": "ENST00000920262.1",
"protein_id": "ENSP00000590321.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 486,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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{
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],
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}
],
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"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
}