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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: 3-45833099-GGCTTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45833099&ref=GGCTTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 45833099,
"ref": "GGCTTT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000296135.11",
"consequences": [
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.402_406delAAAGC",
"hgvs_p": "p.Pro136fs",
"transcript": "NM_020347.4",
"protein_id": "NP_065080.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 299,
"cds_start": 402,
"cds_end": null,
"cds_length": 900,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": "ENST00000296135.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.402_406delAAAGC",
"hgvs_p": "p.Pro136fs",
"transcript": "ENST00000296135.11",
"protein_id": "ENSP00000296135.6",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 299,
"cds_start": 402,
"cds_end": null,
"cds_length": 900,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": "NM_020347.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.426_430delAAAGC",
"hgvs_p": "p.Pro144fs",
"transcript": "NM_001405920.1",
"protein_id": "NP_001392849.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 307,
"cds_start": 426,
"cds_end": null,
"cds_length": 924,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.390_394delAAAGC",
"hgvs_p": "p.Pro132fs",
"transcript": "NM_001405921.1",
"protein_id": "NP_001392850.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 295,
"cds_start": 390,
"cds_end": null,
"cds_length": 888,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.351_355delAAAGC",
"hgvs_p": "p.Pro119fs",
"transcript": "NM_001276378.2",
"protein_id": "NP_001263307.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 282,
"cds_start": 351,
"cds_end": null,
"cds_length": 849,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.351_355delAAAGC",
"hgvs_p": "p.Pro119fs",
"transcript": "NM_001386451.1",
"protein_id": "NP_001373380.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 282,
"cds_start": 351,
"cds_end": null,
"cds_length": 849,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.351_355delAAAGC",
"hgvs_p": "p.Pro119fs",
"transcript": "NM_001405922.1",
"protein_id": "NP_001392851.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 282,
"cds_start": 351,
"cds_end": null,
"cds_length": 849,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.351_355delAAAGC",
"hgvs_p": "p.Pro119fs",
"transcript": "NM_001405923.1",
"protein_id": "NP_001392852.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 282,
"cds_start": 351,
"cds_end": null,
"cds_length": 849,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.351_355delAAAGC",
"hgvs_p": "p.Pro119fs",
"transcript": "ENST00000684620.1",
"protein_id": "ENSP00000506925.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 282,
"cds_start": 351,
"cds_end": null,
"cds_length": 849,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.402_406delAAAGC",
"hgvs_p": "p.Pro136fs",
"transcript": "NM_001405924.1",
"protein_id": "NP_001392853.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 277,
"cds_start": 402,
"cds_end": null,
"cds_length": 834,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.426_430delAAAGC",
"hgvs_p": "p.Pro144fs",
"transcript": "NM_001405925.1",
"protein_id": "NP_001392854.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 268,
"cds_start": 426,
"cds_end": null,
"cds_length": 807,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.402_406delAAAGC",
"hgvs_p": "p.Pro136fs",
"transcript": "NM_001386452.1",
"protein_id": "NP_001373381.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 260,
"cds_start": 402,
"cds_end": null,
"cds_length": 783,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.390_394delAAAGC",
"hgvs_p": "p.Pro132fs",
"transcript": "NM_001276379.2",
"protein_id": "NP_001263308.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 256,
"cds_start": 390,
"cds_end": null,
"cds_length": 771,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.390_394delAAAGC",
"hgvs_p": "p.Pro132fs",
"transcript": "ENST00000539217.5",
"protein_id": "ENSP00000441784.1",
"transcript_support_level": 2,
"aa_start": 130,
"aa_end": null,
"aa_length": 256,
"cds_start": 390,
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"cdna_start": 729,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.351_355delAAAGC",
"hgvs_p": "p.Pro119fs",
"transcript": "NM_001405926.1",
"protein_id": "NP_001392855.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 243,
"cds_start": 351,
"cds_end": null,
"cds_length": 732,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.351_355delAAAGC",
"hgvs_p": "p.Pro119fs",
"transcript": "NM_001405927.1",
"protein_id": "NP_001392856.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 351,
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"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TKP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.351_355delAAAGC",
"hgvs_p": "p.Pro119fs",
"transcript": "NM_001405928.1",
"protein_id": "NP_001392857.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 243,
"cds_start": 351,
"cds_end": null,
"cds_length": 732,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.273_277delAAAGC",
"hgvs_p": "p.Pro93fs",
"transcript": "ENST00000440576.2",
"protein_id": "ENSP00000416083.2",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 234,
"cds_start": 273,
"cds_end": null,
"cds_length": 705,
"cdna_start": 278,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.579_583delAAAGC",
"hgvs_p": "p.Pro195fs",
"transcript": "XM_047448365.1",
"protein_id": "XP_047304321.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.579_583delAAAGC",
"hgvs_p": "p.Pro195fs",
"transcript": "XM_047448366.1",
"protein_id": "XP_047304322.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
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"cds_start": 579,
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"cdna_start": 13403,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.429_433delAAAGC",
"hgvs_p": "p.Pro145fs",
"transcript": "XM_017006645.3",
"protein_id": "XP_016862134.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 308,
"cds_start": 429,
"cds_end": null,
"cds_length": 927,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 4260,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "n.415_419delAAAGC",
"hgvs_p": null,
"transcript": "ENST00000411866.5",
"protein_id": null,
"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": 986,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
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}
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"hom_count_reference_population": 0,
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"computational_source_selected": null,
"splice_score_selected": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 7.312,
"phylop100way_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"PP5"
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"verdict": "Pathogenic",
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"gene_symbol": "LZTFL1",
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"effects": [
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],
"inheritance_mode": "AR",
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},
{
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"PP5"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "ENSG00000288720",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Bardet-Biedl syndrome 17",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Bardet-Biedl syndrome 17",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}