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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: 3-146071125-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146071125&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 146071125,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000282903.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.2038C>G",
"hgvs_p": "p.Arg680Gly",
"transcript": "NM_182943.3",
"protein_id": "NP_891988.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 758,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": "ENST00000282903.10",
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.2038C>G",
"hgvs_p": "p.Arg680Gly",
"transcript": "ENST00000282903.10",
"protein_id": "ENSP00000282903.5",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 758,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": "NM_182943.3",
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1975C>G",
"hgvs_p": "p.Arg659Gly",
"transcript": "ENST00000360060.7",
"protein_id": "ENSP00000353170.3",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 737,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 3665,
"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": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.2038C>G",
"hgvs_p": "p.Arg680Gly",
"transcript": "ENST00000703518.1",
"protein_id": "ENSP00000515350.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 758,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2973,
"cdna_end": null,
"cdna_length": 4502,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.2038C>G",
"hgvs_p": "p.Arg680Gly",
"transcript": "ENST00000703522.1",
"protein_id": "ENSP00000515353.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 758,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 4060,
"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": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.2038C>G",
"hgvs_p": "p.Arg680Gly",
"transcript": "ENST00000703527.1",
"protein_id": "ENSP00000515355.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 758,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2870,
"cdna_end": null,
"cdna_length": 4330,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1975C>G",
"hgvs_p": "p.Arg659Gly",
"transcript": "NM_000935.3",
"protein_id": "NP_000926.2",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 737,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 3686,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1975C>G",
"hgvs_p": "p.Arg659Gly",
"transcript": "ENST00000703523.1",
"protein_id": "ENSP00000515354.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 737,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 3997,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1891C>G",
"hgvs_p": "p.Arg631Gly",
"transcript": "ENST00000469350.6",
"protein_id": "ENSP00000419963.2",
"transcript_support_level": 5,
"aa_start": 631,
"aa_end": null,
"aa_length": 709,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 3511,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1873C>G",
"hgvs_p": "p.Arg625Gly",
"transcript": "ENST00000494950.5",
"protein_id": "ENSP00000420094.1",
"transcript_support_level": 2,
"aa_start": 625,
"aa_end": null,
"aa_length": 703,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 2908,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1870C>G",
"hgvs_p": "p.Arg624Gly",
"transcript": "ENST00000706635.1",
"protein_id": "ENSP00000516475.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 702,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 3536,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1861C>G",
"hgvs_p": "p.Arg621Gly",
"transcript": "ENST00000706626.1",
"protein_id": "ENSP00000516472.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 699,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 3572,
"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": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1018C>G",
"hgvs_p": "p.Arg340Gly",
"transcript": "ENST00000461497.5",
"protein_id": "ENSP00000419354.1",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 418,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 3043,
"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": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1762C>G",
"hgvs_p": "p.Arg588Gly",
"transcript": "XM_017006625.3",
"protein_id": "XP_016862114.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 666,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 3571,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1762C>G",
"hgvs_p": "p.Arg588Gly",
"transcript": "XM_047448319.1",
"protein_id": "XP_047304275.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 666,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.*1802C>G",
"hgvs_p": null,
"transcript": "ENST00000480704.2",
"protein_id": "ENSP00000419880.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.46C>G",
"hgvs_p": null,
"transcript": "ENST00000495700.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.2055C>G",
"hgvs_p": null,
"transcript": "ENST00000703519.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.*452C>G",
"hgvs_p": null,
"transcript": "ENST00000703520.1",
"protein_id": "ENSP00000515351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.*1390C>G",
"hgvs_p": null,
"transcript": "ENST00000703521.1",
"protein_id": "ENSP00000515352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.1888C>G",
"hgvs_p": null,
"transcript": "ENST00000703524.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.4390C>G",
"hgvs_p": null,
"transcript": "ENST00000703525.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "n.1406C>G",
"hgvs_p": null,
"transcript": "ENST00000703526.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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}
],
"message": null
}