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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: 2-112739008-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=112739008&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 112739008,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152515.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Thr685Ala",
"transcript": "NM_152515.5",
"protein_id": "NP_689728.3",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 745,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": "ENST00000302450.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152515.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Thr685Ala",
"transcript": "ENST00000302450.11",
"protein_id": "ENSP00000305204.6",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 745,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": "NM_152515.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302450.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.*72T>C",
"hgvs_p": null,
"transcript": "NM_001393655.1",
"protein_id": "NP_001380584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": null,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": "ENST00000688554.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393655.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.*72T>C",
"hgvs_p": null,
"transcript": "ENST00000688554.1",
"protein_id": "ENSP00000509504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": null,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": "NM_001393655.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688554.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1249-3404T>C",
"hgvs_p": null,
"transcript": "ENST00000327581.4",
"protein_id": "ENSP00000330247.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327581.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Thr664Ala",
"transcript": "ENST00000937152.1",
"protein_id": "ENSP00000607211.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 724,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937152.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Thr633Ala",
"transcript": "ENST00000937153.1",
"protein_id": "ENSP00000607212.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 693,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937153.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.1558A>G",
"hgvs_p": "p.Thr520Ala",
"transcript": "NM_001304361.2",
"protein_id": "NP_001291290.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 580,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304361.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP2L",
"gene_hgnc_id": 26877,
"hgvs_c": "c.1558A>G",
"hgvs_p": "p.Thr520Ala",
"transcript": "XM_011510666.3",
"protein_id": "XP_011508968.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 580,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510666.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.*72T>C",
"hgvs_p": null,
"transcript": "XM_024452804.2",
"protein_id": "XP_024308572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452804.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1345-1512T>C",
"hgvs_p": null,
"transcript": "ENST00000690591.1",
"protein_id": "ENSP00000508583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690591.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1216-1512T>C",
"hgvs_p": null,
"transcript": "ENST00000689550.1",
"protein_id": "ENSP00000509747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": null,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1249-3404T>C",
"hgvs_p": null,
"transcript": "NM_001350494.2",
"protein_id": "NP_001337423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350494.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1552-1512T>C",
"hgvs_p": null,
"transcript": "XM_024452799.2",
"protein_id": "XP_024308567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
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"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452799.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1537-1512T>C",
"hgvs_p": null,
"transcript": "XM_011512262.3",
"protein_id": "XP_011510564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512262.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1534-1512T>C",
"hgvs_p": null,
"transcript": "XM_024452800.2",
"protein_id": "XP_024308568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
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"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452800.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1519-1512T>C",
"hgvs_p": null,
"transcript": "XM_017005474.2",
"protein_id": "XP_016860963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005474.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1552-3404T>C",
"hgvs_p": null,
"transcript": "XM_024452802.2",
"protein_id": "XP_024308570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
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"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452802.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1426-1512T>C",
"hgvs_p": null,
"transcript": "XM_024452803.2",
"protein_id": "XP_024308571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452803.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1519-3404T>C",
"hgvs_p": null,
"transcript": "XM_017005475.1",
"protein_id": "XP_016860964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
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"cds_length": 1557,
"cdna_start": null,
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"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005475.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1381-1512T>C",
"hgvs_p": null,
"transcript": "XM_024452807.2",
"protein_id": "XP_024308575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 510,
"cds_start": null,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452807.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NT5DC4",
"gene_hgnc_id": 27678,
"hgvs_c": "c.1345-1512T>C",
"hgvs_p": null,
"transcript": "XM_017005476.2",
"protein_id": "XP_016860965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005476.2"
},
{
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"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
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],
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"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}