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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: 15-72735167-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72735167&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72735167,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000268057.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1091C>G",
"hgvs_p": "p.Ala364Gly",
"transcript": "NM_033028.5",
"protein_id": "NP_149017.2",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 519,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": "ENST00000268057.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1091C>G",
"hgvs_p": "p.Ala364Gly",
"transcript": "ENST00000268057.9",
"protein_id": "ENSP00000268057.4",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 519,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": "NM_033028.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Ala192Gly",
"transcript": "ENST00000395205.7",
"protein_id": "ENSP00000378631.3",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 347,
"cds_start": 575,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Ala192Gly",
"transcript": "ENST00000566400.6",
"protein_id": "ENSP00000456759.2",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 347,
"cds_start": 575,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*1170C>G",
"hgvs_p": null,
"transcript": "ENST00000562084.5",
"protein_id": "ENSP00000454718.1",
"transcript_support_level": 1,
"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": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.526C>G",
"hgvs_p": null,
"transcript": "ENST00000562219.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*1170C>G",
"hgvs_p": null,
"transcript": "ENST00000562084.5",
"protein_id": "ENSP00000454718.1",
"transcript_support_level": 1,
"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": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"transcript": "ENST00000566197.2",
"protein_id": "ENSP00000457479.2",
"transcript_support_level": 3,
"aa_start": 376,
"aa_end": null,
"aa_length": 531,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Ala372Gly",
"transcript": "ENST00000566829.2",
"protein_id": "ENSP00000455958.2",
"transcript_support_level": 4,
"aa_start": 372,
"aa_end": null,
"aa_length": 527,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1022C>G",
"hgvs_p": "p.Ala341Gly",
"transcript": "NM_001320665.2",
"protein_id": "NP_001307594.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 496,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1022C>G",
"hgvs_p": "p.Ala341Gly",
"transcript": "ENST00000569338.6",
"protein_id": "ENSP00000456758.2",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 496,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Ala192Gly",
"transcript": "NM_001252678.2",
"protein_id": "NP_001239607.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 347,
"cds_start": 575,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Ala192Gly",
"transcript": "ENST00000718298.1",
"protein_id": "ENSP00000520733.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 347,
"cds_start": 575,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.506C>G",
"hgvs_p": "p.Ala169Gly",
"transcript": "ENST00000566938.6",
"protein_id": "ENSP00000456463.2",
"transcript_support_level": 4,
"aa_start": 169,
"aa_end": null,
"aa_length": 324,
"cds_start": 506,
"cds_end": null,
"cds_length": 975,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1055C>G",
"hgvs_p": "p.Ala352Gly",
"transcript": "XM_047432911.1",
"protein_id": "XP_047288867.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 507,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1046C>G",
"hgvs_p": "p.Ala349Gly",
"transcript": "XM_017022450.2",
"protein_id": "XP_016877939.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 504,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Ala192Gly",
"transcript": "XM_017022454.2",
"protein_id": "XP_016877943.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 347,
"cds_start": 575,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Ala192Gly",
"transcript": "XM_047432912.1",
"protein_id": "XP_047288868.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 347,
"cds_start": 575,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.575C>G",
"hgvs_p": "p.Ala192Gly",
"transcript": "XM_047432913.1",
"protein_id": "XP_047288869.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 347,
"cds_start": 575,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.359C>G",
"hgvs_p": "p.Ala120Gly",
"transcript": "XM_047432914.1",
"protein_id": "XP_047288870.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 275,
"cds_start": 359,
"cds_end": null,
"cds_length": 828,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*667C>G",
"hgvs_p": null,
"transcript": "ENST00000561914.6",
"protein_id": "ENSP00000457795.1",
"transcript_support_level": 5,
"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": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*667C>G",
"hgvs_p": null,
"transcript": "ENST00000565160.6",
"protein_id": "ENSP00000455412.1",
"transcript_support_level": 3,
"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": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*945C>G",
"hgvs_p": null,
"transcript": "ENST00000567279.5",
"protein_id": "ENSP00000456664.1",
"transcript_support_level": 2,
"aa_start": null,
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}
],
"message": null
}