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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: 16-55812976-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=55812976&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 55812976,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001025195.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "NM_001025195.2",
"protein_id": "NP_001020366.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 568,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": "ENST00000360526.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025195.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "ENST00000360526.8",
"protein_id": "ENSP00000353720.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 568,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": "NM_001025195.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360526.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "ENST00000361503.8",
"protein_id": "ENSP00000355193.4",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 567,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361503.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "ENST00000422046.6",
"protein_id": "ENSP00000390492.2",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 566,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422046.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "ENST00000905505.1",
"protein_id": "ENSP00000575564.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 590,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905505.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "ENST00000905502.1",
"protein_id": "ENSP00000575561.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 586,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905502.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "ENST00000905506.1",
"protein_id": "ENSP00000575565.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 585,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905506.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "ENST00000969258.1",
"protein_id": "ENSP00000639317.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 580,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969258.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "ENST00000905493.1",
"protein_id": "ENSP00000575552.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 578,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905493.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1034C>G",
"hgvs_p": "p.Ala345Gly",
"transcript": "ENST00000905507.1",
"protein_id": "ENSP00000575566.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 575,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905507.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1034C>G",
"hgvs_p": "p.Ala345Gly",
"transcript": "ENST00000969257.1",
"protein_id": "ENSP00000639316.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 574,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969257.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "NM_001025194.2",
"protein_id": "NP_001020365.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 567,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025194.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "ENST00000905467.1",
"protein_id": "ENSP00000575526.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 567,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905467.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "ENST00000905504.1",
"protein_id": "ENSP00000575563.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 567,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905504.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "NM_001266.5",
"protein_id": "NP_001257.4",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 566,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001266.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "ENST00000905508.1",
"protein_id": "ENSP00000575567.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 566,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905508.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "ENST00000969256.1",
"protein_id": "ENSP00000639315.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 566,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969256.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1004C>G",
"hgvs_p": "p.Ala335Gly",
"transcript": "ENST00000905485.1",
"protein_id": "ENSP00000575544.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 565,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905485.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "ENST00000905490.1",
"protein_id": "ENSP00000575549.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 565,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905490.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1013C>G",
"hgvs_p": "p.Ala338Gly",
"transcript": "ENST00000905496.1",
"protein_id": "ENSP00000575555.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 564,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905496.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1001C>G",
"hgvs_p": "p.Ala334Gly",
"transcript": "ENST00000905488.1",
"protein_id": "ENSP00000575547.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 563,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905488.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES1",
"gene_hgnc_id": 1863,
"hgvs_c": "c.1010C>G",
"hgvs_p": "p.Ala337Gly",
"transcript": "ENST00000905495.1",
"protein_id": "ENSP00000575554.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 563,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905495.1"
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}