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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: 15-72735897-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72735897&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72735897,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000268057.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1179C>T",
"hgvs_p": "p.Ala393Ala",
"transcript": "NM_033028.5",
"protein_id": "NP_149017.2",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 519,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": "ENST00000268057.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1179C>T",
"hgvs_p": "p.Ala393Ala",
"transcript": "ENST00000268057.9",
"protein_id": "ENSP00000268057.4",
"transcript_support_level": 1,
"aa_start": 393,
"aa_end": null,
"aa_length": 519,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": "NM_033028.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Ala221Ala",
"transcript": "ENST00000395205.7",
"protein_id": "ENSP00000378631.3",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 347,
"cds_start": 663,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Ala221Ala",
"transcript": "ENST00000566400.6",
"protein_id": "ENSP00000456759.2",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 347,
"cds_start": 663,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1174,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*1258C>T",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*1258C>T",
"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": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1215C>T",
"hgvs_p": "p.Ala405Ala",
"transcript": "ENST00000566197.2",
"protein_id": "ENSP00000457479.2",
"transcript_support_level": 3,
"aa_start": 405,
"aa_end": null,
"aa_length": 531,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Ala401Ala",
"transcript": "ENST00000566829.2",
"protein_id": "ENSP00000455958.2",
"transcript_support_level": 4,
"aa_start": 401,
"aa_end": null,
"aa_length": 527,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1110C>T",
"hgvs_p": "p.Ala370Ala",
"transcript": "NM_001320665.2",
"protein_id": "NP_001307594.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 496,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1110C>T",
"hgvs_p": "p.Ala370Ala",
"transcript": "ENST00000569338.6",
"protein_id": "ENSP00000456758.2",
"transcript_support_level": 5,
"aa_start": 370,
"aa_end": null,
"aa_length": 496,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Ala221Ala",
"transcript": "NM_001252678.2",
"protein_id": "NP_001239607.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 347,
"cds_start": 663,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Ala221Ala",
"transcript": "ENST00000718298.1",
"protein_id": "ENSP00000520733.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 347,
"cds_start": 663,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Ala198Ala",
"transcript": "ENST00000566938.6",
"protein_id": "ENSP00000456463.2",
"transcript_support_level": 4,
"aa_start": 198,
"aa_end": null,
"aa_length": 324,
"cds_start": 594,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1143C>T",
"hgvs_p": "p.Ala381Ala",
"transcript": "XM_047432911.1",
"protein_id": "XP_047288867.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 507,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.1134C>T",
"hgvs_p": "p.Ala378Ala",
"transcript": "XM_017022450.2",
"protein_id": "XP_016877939.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 504,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Ala221Ala",
"transcript": "XM_017022454.2",
"protein_id": "XP_016877943.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 347,
"cds_start": 663,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Ala221Ala",
"transcript": "XM_047432912.1",
"protein_id": "XP_047288868.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 347,
"cds_start": 663,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.663C>T",
"hgvs_p": "p.Ala221Ala",
"transcript": "XM_047432913.1",
"protein_id": "XP_047288869.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 347,
"cds_start": 663,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.Ala149Ala",
"transcript": "XM_047432914.1",
"protein_id": "XP_047288870.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 275,
"cds_start": 447,
"cds_end": null,
"cds_length": 828,
"cdna_start": 546,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*755C>T",
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*755C>T",
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.*1033C>T",
"hgvs_p": null,
"transcript": "ENST00000567279.5",
"protein_id": "ENSP00000456664.1",
"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": 1876,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS4",
"gene_hgnc_id": 969,
"hgvs_c": "n.381C>T",
"hgvs_p": null,
"transcript": "ENST00000568535.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Bardet-Biedl syndrome|Bardet-Biedl syndrome 4|BBS4-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}