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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: 2-201491200-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201491200&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201491200,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001168221.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5141T>G",
"hgvs_p": "p.Leu1714Arg",
"transcript": "NM_001168221.2",
"protein_id": "NP_001161693.1",
"transcript_support_level": null,
"aa_start": 1714,
"aa_end": null,
"aa_length": 1820,
"cds_start": 5141,
"cds_end": null,
"cds_length": 5463,
"cdna_start": 5189,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": "ENST00000439140.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168221.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5141T>G",
"hgvs_p": "p.Leu1714Arg",
"transcript": "ENST00000439140.6",
"protein_id": "ENSP00000409937.1",
"transcript_support_level": 1,
"aa_start": 1714,
"aa_end": null,
"aa_length": 1820,
"cds_start": 5141,
"cds_end": null,
"cds_length": 5463,
"cdna_start": 5189,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": "NM_001168221.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439140.6"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1582-3298T>G",
"hgvs_p": null,
"transcript": "ENST00000286195.7",
"protein_id": "ENSP00000286195.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286195.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4718T>G",
"hgvs_p": "p.Leu1573Arg",
"transcript": "ENST00000957096.1",
"protein_id": "ENSP00000627155.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4718,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4765,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957096.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5144T>G",
"hgvs_p": "p.Leu1715Arg",
"transcript": "XM_047443505.1",
"protein_id": "XP_047299461.1",
"transcript_support_level": null,
"aa_start": 1715,
"aa_end": null,
"aa_length": 1821,
"cds_start": 5144,
"cds_end": null,
"cds_length": 5466,
"cdna_start": 5192,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443505.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5075T>G",
"hgvs_p": "p.Leu1692Arg",
"transcript": "XM_047443506.1",
"protein_id": "XP_047299462.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5075,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 5123,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443506.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4859T>G",
"hgvs_p": "p.Leu1620Arg",
"transcript": "XM_047443507.1",
"protein_id": "XP_047299463.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 1726,
"cds_start": 4859,
"cds_end": null,
"cds_length": 5181,
"cdna_start": 4907,
"cdna_end": null,
"cdna_length": 5420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443507.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4856T>G",
"hgvs_p": "p.Leu1619Arg",
"transcript": "XM_047443508.1",
"protein_id": "XP_047299464.1",
"transcript_support_level": null,
"aa_start": 1619,
"aa_end": null,
"aa_length": 1725,
"cds_start": 4856,
"cds_end": null,
"cds_length": 5178,
"cdna_start": 4904,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443508.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4736T>G",
"hgvs_p": "p.Leu1579Arg",
"transcript": "XM_047443509.1",
"protein_id": "XP_047299465.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4736,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 4784,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443509.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4667T>G",
"hgvs_p": "p.Leu1556Arg",
"transcript": "XM_047443510.1",
"protein_id": "XP_047299466.1",
"transcript_support_level": null,
"aa_start": 1556,
"aa_end": null,
"aa_length": 1662,
"cds_start": 4667,
"cds_end": null,
"cds_length": 4989,
"cdna_start": 4715,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443510.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3506T>G",
"hgvs_p": "p.Leu1169Arg",
"transcript": "XM_024452727.2",
"protein_id": "XP_024308495.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3506,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 4163,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452727.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3506T>G",
"hgvs_p": "p.Leu1169Arg",
"transcript": "XM_047443511.1",
"protein_id": "XP_047299467.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3506,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 3752,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443511.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3506T>G",
"hgvs_p": "p.Leu1169Arg",
"transcript": "XM_047443513.1",
"protein_id": "XP_047299469.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3506,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 4064,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443513.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1585-3298T>G",
"hgvs_p": null,
"transcript": "ENST00000957097.1",
"protein_id": "ENSP00000627156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957097.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1582-3298T>G",
"hgvs_p": null,
"transcript": "NM_152525.6",
"protein_id": "NP_689738.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152525.6"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1015-3298T>G",
"hgvs_p": null,
"transcript": "ENST00000957098.1",
"protein_id": "ENSP00000627157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957098.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*50-3298T>G",
"hgvs_p": null,
"transcript": "NM_001168216.2",
"protein_id": "NP_001161688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168216.2"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*50-3298T>G",
"hgvs_p": null,
"transcript": "ENST00000439802.5",
"protein_id": "ENSP00000400672.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439802.5"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1585-3298T>G",
"hgvs_p": null,
"transcript": "XM_006712331.4",
"protein_id": "XP_006712394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712331.4"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1510-3298T>G",
"hgvs_p": null,
"transcript": "XM_006712332.4",
"protein_id": "XP_006712395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712332.4"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1507-3298T>G",
"hgvs_p": null,
"transcript": "XM_024452728.2",
"protein_id": "XP_024308496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": null,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452728.2"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*50-3298T>G",
"hgvs_p": null,
"transcript": "XM_006712333.4",
"protein_id": "XP_006712396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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{
"score": 2,
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}