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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: 3-53780062-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53780062&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53780062,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000350061.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4684G>A",
"hgvs_p": "p.Gly1562Arg",
"transcript": "NM_000720.4",
"protein_id": "NP_000711.1",
"transcript_support_level": null,
"aa_start": 1562,
"aa_end": null,
"aa_length": 2181,
"cds_start": 4684,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "ENST00000288139.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4684G>A",
"hgvs_p": "p.Gly1562Arg",
"transcript": "ENST00000288139.11",
"protein_id": "ENSP00000288139.3",
"transcript_support_level": 1,
"aa_start": 1562,
"aa_end": null,
"aa_length": 2181,
"cds_start": 4684,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "NM_000720.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4624G>A",
"hgvs_p": "p.Gly1542Arg",
"transcript": "NM_001128840.3",
"protein_id": "NP_001122312.1",
"transcript_support_level": null,
"aa_start": 1542,
"aa_end": null,
"aa_length": 2161,
"cds_start": 4624,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 5180,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "ENST00000350061.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4624G>A",
"hgvs_p": "p.Gly1542Arg",
"transcript": "ENST00000350061.11",
"protein_id": "ENSP00000288133.5",
"transcript_support_level": 1,
"aa_start": 1542,
"aa_end": null,
"aa_length": 2161,
"cds_start": 4624,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 5180,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "NM_001128840.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4684G>A",
"hgvs_p": "p.Gly1562Arg",
"transcript": "ENST00000481478.2",
"protein_id": "ENSP00000418014.2",
"transcript_support_level": 1,
"aa_start": 1562,
"aa_end": null,
"aa_length": 2181,
"cds_start": 4684,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4579G>A",
"hgvs_p": "p.Gly1527Arg",
"transcript": "ENST00000422281.7",
"protein_id": "ENSP00000409174.2",
"transcript_support_level": 1,
"aa_start": 1527,
"aa_end": null,
"aa_length": 2137,
"cds_start": 4579,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 4579,
"cdna_end": null,
"cdna_length": 7211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4651G>A",
"hgvs_p": "p.Gly1551Arg",
"transcript": "ENST00000637424.1",
"protein_id": "ENSP00000489769.1",
"transcript_support_level": 5,
"aa_start": 1551,
"aa_end": null,
"aa_length": 2170,
"cds_start": 4651,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 4994,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4579G>A",
"hgvs_p": "p.Gly1527Arg",
"transcript": "ENST00000636570.1",
"protein_id": "ENSP00000490183.1",
"transcript_support_level": 5,
"aa_start": 1527,
"aa_end": null,
"aa_length": 2146,
"cds_start": 4579,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 4579,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4579G>A",
"hgvs_p": "p.Gly1527Arg",
"transcript": "NM_001128839.3",
"protein_id": "NP_001122311.1",
"transcript_support_level": null,
"aa_start": 1527,
"aa_end": null,
"aa_length": 2137,
"cds_start": 4579,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 5135,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4624G>A",
"hgvs_p": "p.Gly1542Arg",
"transcript": "ENST00000636938.1",
"protein_id": "ENSP00000490039.1",
"transcript_support_level": 5,
"aa_start": 1542,
"aa_end": null,
"aa_length": 1647,
"cds_start": 4624,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 5117,
"cdna_end": null,
"cdna_length": 6868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4612G>A",
"hgvs_p": "p.Gly1538Arg",
"transcript": "ENST00000640483.1",
"protein_id": "ENSP00000491921.1",
"transcript_support_level": 5,
"aa_start": 1538,
"aa_end": null,
"aa_length": 1643,
"cds_start": 4612,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4684G>A",
"hgvs_p": "p.Gly1562Arg",
"transcript": "ENST00000636627.2",
"protein_id": "ENSP00000490889.2",
"transcript_support_level": 5,
"aa_start": 1562,
"aa_end": null,
"aa_length": 1625,
"cds_start": 4684,
"cds_end": null,
"cds_length": 4878,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1810G>A",
"hgvs_p": "p.Gly604Arg",
"transcript": "ENST00000645528.2",
"protein_id": "ENSP00000494413.2",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 709,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Gly385Arg",
"transcript": "ENST00000638120.1",
"protein_id": "ENSP00000489790.1",
"transcript_support_level": 2,
"aa_start": 385,
"aa_end": null,
"aa_length": 490,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4879G>A",
"hgvs_p": "p.Gly1627Arg",
"transcript": "XM_011534094.3",
"protein_id": "XP_011532396.1",
"transcript_support_level": null,
"aa_start": 1627,
"aa_end": null,
"aa_length": 2246,
"cds_start": 4879,
"cds_end": null,
"cds_length": 6741,
"cdna_start": 4894,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4879G>A",
"hgvs_p": "p.Gly1627Arg",
"transcript": "XM_017007137.2",
"protein_id": "XP_016862626.1",
"transcript_support_level": null,
"aa_start": 1627,
"aa_end": null,
"aa_length": 2246,
"cds_start": 4879,
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"cds_length": 6741,
"cdna_start": 4894,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4876G>A",
"hgvs_p": "p.Gly1626Arg",
"transcript": "XM_017007138.2",
"protein_id": "XP_016862627.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 2245,
"cds_start": 4876,
"cds_end": null,
"cds_length": 6738,
"cdna_start": 4891,
"cdna_end": null,
"cdna_length": 9080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4879G>A",
"hgvs_p": "p.Gly1627Arg",
"transcript": "XM_017007139.2",
"protein_id": "XP_016862628.1",
"transcript_support_level": null,
"aa_start": 1627,
"aa_end": null,
"aa_length": 2237,
"cds_start": 4879,
"cds_end": null,
"cds_length": 6714,
"cdna_start": 4894,
"cdna_end": null,
"cdna_length": 9056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4819G>A",
"hgvs_p": "p.Gly1607Arg",
"transcript": "XM_017007140.2",
"protein_id": "XP_016862629.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 2226,
"cds_start": 4819,
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"cdna_start": 4834,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4819G>A",
"hgvs_p": "p.Gly1607Arg",
"transcript": "XM_017007141.2",
"protein_id": "XP_016862630.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 2226,
"cds_start": 4819,
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"cdna_start": 4834,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4834G>A",
"hgvs_p": "p.Gly1612Arg",
"transcript": "XM_047448871.1",
"protein_id": "XP_047304827.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 2222,
"cds_start": 4834,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 4849,
"cdna_end": null,
"cdna_length": 9011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.4795G>A",
"hgvs_p": "p.Gly1599Arg",
"transcript": "XM_017007142.2",
"protein_id": "XP_016862631.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 2218,
"cds_start": 4795,
"cds_end": null,
"cds_length": 6657,
"cdna_start": 4810,
"cdna_end": null,
"cdna_length": 8999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
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],
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}