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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: 11-17406900-GCAGTTCCTGGCTGCAGGGGT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17406900&ref=GCAGTTCCTGGCTGCAGGGGT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17406900,
"ref": "GCAGTTCCTGGCTGCAGGGGT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000389817.8",
"consequences": [
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3130_3149delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1044fs",
"transcript": "NM_000352.6",
"protein_id": "NP_000343.2",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1581,
"cds_start": 3130,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 3218,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "ENST00000389817.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3130_3149delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1044fs",
"transcript": "ENST00000389817.8",
"protein_id": "ENSP00000374467.4",
"transcript_support_level": 1,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1581,
"cds_start": 3130,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 3218,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": "NM_000352.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3196_3215delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1066fs",
"transcript": "NM_001351295.2",
"protein_id": "NP_001338224.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3196,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3196_3215delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1066fs",
"transcript": "ENST00000644772.1",
"protein_id": "ENSP00000494321.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1603,
"cds_start": 3196,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 3246,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3133_3152delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1045fs",
"transcript": "NM_001287174.3",
"protein_id": "NP_001274103.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1582,
"cds_start": 3133,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 3221,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3133_3152delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1045fs",
"transcript": "ENST00000302539.9",
"protein_id": "ENSP00000303960.4",
"transcript_support_level": 5,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1582,
"cds_start": 3133,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 3221,
"cdna_end": null,
"cdna_length": 4924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3130_3149delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1044fs",
"transcript": "NM_001351296.2",
"protein_id": "NP_001338225.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1581,
"cds_start": 3130,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 3218,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3130_3149delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1044fs",
"transcript": "ENST00000643260.1",
"protein_id": "ENSP00000494450.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1581,
"cds_start": 3130,
"cds_end": null,
"cds_length": 4746,
"cdna_start": 3218,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3127_3146delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1043fs",
"transcript": "NM_001351297.2",
"protein_id": "NP_001338226.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1580,
"cds_start": 3127,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3127_3146delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1043fs",
"transcript": "ENST00000642271.1",
"protein_id": "ENSP00000493749.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1580,
"cds_start": 3127,
"cds_end": null,
"cds_length": 4743,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3127_3146delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1043fs",
"transcript": "ENST00000646902.1",
"protein_id": "ENSP00000494101.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1570,
"cds_start": 3127,
"cds_end": null,
"cds_length": 4713,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.3127_3146delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr1043fs",
"transcript": "ENST00000683136.1",
"protein_id": "ENSP00000507768.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1542,
"cds_start": 3127,
"cds_end": null,
"cds_length": 4629,
"cdna_start": 3242,
"cdna_end": null,
"cdna_length": 4819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2971_2990delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr991fs",
"transcript": "ENST00000684571.1",
"protein_id": "ENSP00000506935.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1528,
"cds_start": 2971,
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"cds_length": 4587,
"cdna_start": 3031,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.2881_2900delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr961fs",
"transcript": "ENST00000647015.1",
"protein_id": "ENSP00000495389.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1498,
"cds_start": 2881,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TPAARNC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "c.1213_1232delACCCCTGCAGCCAGGAACTG",
"hgvs_p": "p.Thr405fs",
"transcript": "ENST00000642579.1",
"protein_id": "ENSP00000496714.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 932,
"cds_start": 1213,
"cds_end": null,
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"cdna_start": 1233,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.2699_2718delACCCCTGCAGCCAGGAACTG",
"hgvs_p": null,
"transcript": "ENST00000524561.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.814_833delACCCCTGCAGCCAGGAACTG",
"hgvs_p": null,
"transcript": "ENST00000526921.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
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"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": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*6_*25delACCCCTGCAGCCAGGAACTG",
"hgvs_p": null,
"transcript": "ENST00000527905.5",
"protein_id": "ENSP00000431653.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.1469_1488delACCCCTGCAGCCAGGAACTG",
"hgvs_p": null,
"transcript": "ENST00000529967.6",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.862_881delACCCCTGCAGCCAGGAACTG",
"hgvs_p": null,
"transcript": "ENST00000532220.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"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": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.3199_3218delACCCCTGCAGCCAGGAACTG",
"hgvs_p": null,
"transcript": "ENST00000642611.2",
"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": 6173,
"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": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC8",
"gene_hgnc_id": 59,
"hgvs_c": "n.*1215_*1234delACCCCTGCAGCCAGGAACTG",
"hgvs_p": null,
"transcript": "ENST00000642902.1",
"protein_id": "ENSP00000493601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"phenotype_combined": "not provided|Hyperinsulinemic hypoglycemia, familial, 1|Type 2 diabetes mellitus",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
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}