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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: 10-87076657-C-CTGGTGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87076657&ref=C&alt=CTGGTGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 87076657,
"ref": "C",
"alt": "CTGGTGG",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000277865.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.446-7_446-2dupCCACCA",
"hgvs_p": null,
"transcript": "NM_005271.5",
"protein_id": "NP_005262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": -4,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": "ENST00000277865.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.446-7_446-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000277865.5",
"protein_id": "ENSP00000277865.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": -4,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": "NM_005271.5",
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "n.3221_3226dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000683647.1",
"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": 6257,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "n.1170_1175dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000684392.1",
"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": 1889,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "n.220_225dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000684690.1",
"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": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.446-7_446-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000684338.1",
"protein_id": "ENSP00000507457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.446-7_446-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000684201.1",
"protein_id": "ENSP00000507887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.47-7_47-2dupCCACCA",
"hgvs_p": null,
"transcript": "NM_001318900.1",
"protein_id": "NP_001305829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "NM_001318901.1",
"protein_id": "NP_001305830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "NM_001318902.1",
"protein_id": "NP_001305831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3216,
"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": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "NM_001318904.2",
"protein_id": "NP_001305833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
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"cds_length": 1176,
"cdna_start": null,
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"cdna_length": 3527,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "NM_001318905.2",
"protein_id": "NP_001305834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "NM_001318906.2",
"protein_id": "NP_001305835.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 391,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
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"gene_symbol": "GLUD1",
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"hgvs_c": "c.-56-7_-56-2dupCCACCA",
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"transcript": "ENST00000681988.1",
"protein_id": "ENSP00000507316.1",
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},
{
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"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000682507.1",
"protein_id": "ENSP00000508098.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
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"transcript": "ENST00000683256.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000683269.1",
"protein_id": "ENSP00000508107.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000683783.1",
"protein_id": "ENSP00000507881.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
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"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
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"transcript": "ENST00000684372.1",
"protein_id": "ENSP00000508244.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "c.-56-7_-56-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000684546.1",
"protein_id": "ENSP00000507729.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "n.284-7_284-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000681987.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GLUD1",
"gene_hgnc_id": 4335,
"hgvs_c": "n.*215-7_*215-2dupCCACCA",
"hgvs_p": null,
"transcript": "ENST00000682396.1",
"protein_id": "ENSP00000506764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2919,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
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}
],
"gene_symbol": "GLUD1",
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"hom_count_reference_population": 0,
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.712,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
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"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"intron_variant"
],
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],
"clinvar_disease": "Hyperinsulinism-hyperammonemia syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hyperinsulinism-hyperammonemia syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}