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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: 15-68211288-CATA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=68211288&ref=CATA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 68211288,
"ref": "CATA",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000249806.11",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.514_516delTAT",
"hgvs_p": "p.Tyr172del",
"transcript": "NM_017882.3",
"protein_id": "NP_060352.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 311,
"cds_start": 514,
"cds_end": null,
"cds_length": 936,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": "ENST00000249806.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.514_516delTAT",
"hgvs_p": "p.Tyr172del",
"transcript": "ENST00000249806.11",
"protein_id": "ENSP00000249806.5",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 311,
"cds_start": 514,
"cds_end": null,
"cds_length": 936,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": "NM_017882.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.415_417delTAT",
"hgvs_p": "p.Tyr139del",
"transcript": "ENST00000637667.1",
"protein_id": "ENSP00000489843.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 250,
"cds_start": 415,
"cds_end": null,
"cds_length": 755,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.325_327delTAT",
"hgvs_p": "p.Tyr109del",
"transcript": "ENST00000566347.5",
"protein_id": "ENSP00000457783.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 248,
"cds_start": 325,
"cds_end": null,
"cds_length": 747,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 981,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*117_*119delTAT",
"hgvs_p": null,
"transcript": "ENST00000638076.1",
"protein_id": "ENSP00000490373.1",
"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": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*117_*119delTAT",
"hgvs_p": null,
"transcript": "ENST00000638076.1",
"protein_id": "ENSP00000490373.1",
"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": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260007",
"gene_hgnc_id": null,
"hgvs_c": "c.84-13663_84-13661delTAT",
"hgvs_p": null,
"transcript": "ENST00000562767.2",
"protein_id": "ENSP00000456336.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.610_612delTAT",
"hgvs_p": "p.Tyr204del",
"transcript": "NM_001411068.1",
"protein_id": "NP_001397997.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 343,
"cds_start": 610,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.610_612delTAT",
"hgvs_p": "p.Tyr204del",
"transcript": "ENST00000538696.5",
"protein_id": "ENSP00000445770.1",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 343,
"cds_start": 610,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.226_228delTAT",
"hgvs_p": "p.Tyr76del",
"transcript": "ENST00000637494.1",
"protein_id": "ENSP00000490057.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 215,
"cds_start": 226,
"cds_end": null,
"cds_length": 648,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IM",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.540_542delTAT",
"hgvs_p": "p.Ile180del",
"transcript": "ENST00000564752.1",
"protein_id": "ENSP00000457822.1",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 213,
"cds_start": 540,
"cds_end": null,
"cds_length": 642,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IM",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.210_212delTAT",
"hgvs_p": "p.Ile70del",
"transcript": "ENST00000636314.1",
"protein_id": "ENSP00000490295.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 103,
"cds_start": 210,
"cds_end": null,
"cds_length": 312,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 442,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.356_358delTAT",
"hgvs_p": null,
"transcript": "ENST00000563917.2",
"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": 557,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*417_*419delTAT",
"hgvs_p": null,
"transcript": "ENST00000635747.1",
"protein_id": "ENSP00000490627.1",
"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": 1181,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*184_*186delTAT",
"hgvs_p": null,
"transcript": "ENST00000636212.1",
"protein_id": "ENSP00000489851.1",
"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": 1053,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.1616_1618delTAT",
"hgvs_p": null,
"transcript": "ENST00000636674.1",
"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": 2005,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.2042_2044delTAT",
"hgvs_p": null,
"transcript": "ENST00000636964.1",
"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": 3335,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*228_*230delTAT",
"hgvs_p": null,
"transcript": "ENST00000637223.1",
"protein_id": "ENSP00000490010.1",
"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": 652,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*224_*226delTAT",
"hgvs_p": null,
"transcript": "ENST00000637329.1",
"protein_id": "ENSP00000489649.1",
"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": 1204,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*168_*170delTAT",
"hgvs_p": null,
"transcript": "ENST00000637450.1",
"protein_id": "ENSP00000490204.1",
"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": 868,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*110_*112delTAT",
"hgvs_p": null,
"transcript": "ENST00000637823.1",
"protein_id": "ENSP00000490011.1",
"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": 717,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.157_159delTAT",
"hgvs_p": null,
"transcript": "ENST00000638144.1",
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*417_*419delTAT",
"hgvs_p": null,
"transcript": "ENST00000635747.1",
"protein_id": "ENSP00000490627.1",
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{
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],
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Ceroid lipofuscinosis, neuronal, 6A",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}