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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: 16-722986-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=722986&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 722986,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000345165.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1237C>G",
"hgvs_p": "p.Arg413Gly",
"transcript": "NM_001378030.1",
"protein_id": "NP_001364959.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 470,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "ENST00000345165.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1237C>G",
"hgvs_p": "p.Arg413Gly",
"transcript": "ENST00000345165.10",
"protein_id": "ENSP00000316851.5",
"transcript_support_level": 5,
"aa_start": 413,
"aa_end": null,
"aa_length": 470,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "NM_001378030.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1233C>G",
"hgvs_p": "p.Ser411Ser",
"transcript": "ENST00000293889.10",
"protein_id": "ENSP00000293889.6",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 438,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1057C>G",
"hgvs_p": "p.Arg353Gly",
"transcript": "NM_001378031.1",
"protein_id": "NP_001364960.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 410,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "NM_001378033.1",
"protein_id": "NP_001364962.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 281,
"cds_start": 670,
"cds_end": null,
"cds_length": 846,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1756C>G",
"hgvs_p": "p.Arg586Gly",
"transcript": "XM_011522356.2",
"protein_id": "XP_011520658.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 643,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1744C>G",
"hgvs_p": "p.Arg582Gly",
"transcript": "XM_011522357.2",
"protein_id": "XP_011520659.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 639,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1756C>G",
"hgvs_p": "p.Arg586Gly",
"transcript": "XM_011522358.3",
"protein_id": "XP_011520660.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 635,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1723C>G",
"hgvs_p": "p.Arg575Gly",
"transcript": "XM_011522359.2",
"protein_id": "XP_011520661.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 632,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1711C>G",
"hgvs_p": "p.Arg571Gly",
"transcript": "XM_011522360.2",
"protein_id": "XP_011520662.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 628,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1684C>G",
"hgvs_p": "p.Arg562Gly",
"transcript": "XM_011522361.2",
"protein_id": "XP_011520663.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 619,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1684C>G",
"hgvs_p": "p.Arg562Gly",
"transcript": "XM_017022929.2",
"protein_id": "XP_016878418.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 611,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1543C>G",
"hgvs_p": "p.Arg515Gly",
"transcript": "XM_011522365.2",
"protein_id": "XP_011520667.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 572,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1534C>G",
"hgvs_p": "p.Arg512Gly",
"transcript": "XM_011522366.2",
"protein_id": "XP_011520668.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 569,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 1882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Arg511Gly",
"transcript": "XM_006720838.2",
"protein_id": "XP_006720901.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 568,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1459C>G",
"hgvs_p": "p.Arg487Gly",
"transcript": "XM_047433602.1",
"protein_id": "XP_047289558.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 544,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1375C>G",
"hgvs_p": "p.Arg459Gly",
"transcript": "XM_011522367.2",
"protein_id": "XP_011520669.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 516,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1363C>G",
"hgvs_p": "p.Arg455Gly",
"transcript": "XM_011522368.2",
"protein_id": "XP_011520670.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 512,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1321C>G",
"hgvs_p": "p.Arg441Gly",
"transcript": "XM_011522369.2",
"protein_id": "XP_011520671.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 498,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1309C>G",
"hgvs_p": "p.Arg437Gly",
"transcript": "XM_006720843.5",
"protein_id": "XP_006720906.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 494,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1237C>G",
"hgvs_p": "p.Arg413Gly",
"transcript": "XM_047433603.1",
"protein_id": "XP_047289559.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 470,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1237C>G",
"hgvs_p": "p.Arg413Gly",
"transcript": "XM_047433604.1",
"protein_id": "XP_047289560.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 470,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1153C>G",
"hgvs_p": "p.Arg385Gly",
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}
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}