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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: 12-94308841-AGTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=94308841&ref=AGTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 94308841,
"ref": "AGTT",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000397809.10",
"consequences": [
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "NM_016122.3",
"protein_id": "NP_057206.2",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": "ENST00000397809.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "ENST00000397809.10",
"protein_id": "ENSP00000380911.4",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": "NM_016122.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "ENST00000339839.9",
"protein_id": "ENSP00000344655.5",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "NM_001042399.2",
"protein_id": "NP_001035858.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "NM_001346457.2",
"protein_id": "NP_001333386.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "NM_001368037.1",
"protein_id": "NP_001354966.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "NM_001368038.1",
"protein_id": "NP_001354967.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1850_1852delAAC",
"hgvs_p": "p.Gln617del",
"transcript": "NM_001368041.1",
"protein_id": "NP_001354970.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 626,
"cds_start": 1850,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1763_1765delAAC",
"hgvs_p": "p.Gln588del",
"transcript": "NM_001346458.2",
"protein_id": "NP_001333387.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 597,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1763_1765delAAC",
"hgvs_p": "p.Gln588del",
"transcript": "NM_001346459.2",
"protein_id": "NP_001333388.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 597,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1763_1765delAAC",
"hgvs_p": "p.Gln588del",
"transcript": "NM_001368039.1",
"protein_id": "NP_001354968.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 597,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1763_1765delAAC",
"hgvs_p": "p.Gln588del",
"transcript": "NM_001368040.1",
"protein_id": "NP_001354969.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 597,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.467_469delAAC",
"hgvs_p": "p.Gln156del",
"transcript": "ENST00000552632.5",
"protein_id": "ENSP00000447094.1",
"transcript_support_level": 3,
"aa_start": 156,
"aa_end": null,
"aa_length": 165,
"cds_start": 467,
"cds_end": null,
"cds_length": 498,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "XM_011538424.3",
"protein_id": "XP_011536726.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
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"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "XM_017019385.3",
"protein_id": "XP_016874874.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
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"cdna_start": 2542,
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"cdna_length": 2834,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "XM_017019386.3",
"protein_id": "XP_016874875.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
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"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "XM_047428922.1",
"protein_id": "XP_047284878.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 701,
"cds_start": 2075,
"cds_end": null,
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"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.2075_2077delAAC",
"hgvs_p": "p.Gln692del",
"transcript": "XM_047428923.1",
"protein_id": "XP_047284879.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
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"cds_start": 2075,
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"mane_select": null,
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},
{
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"aa_alt": "L",
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"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1688_1690delAAC",
"hgvs_p": "p.Gln563del",
"transcript": "XM_017019389.3",
"protein_id": "XP_016874878.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 572,
"cds_start": 1688,
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"cdna_start": 2402,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1661_1663delAAC",
"hgvs_p": "p.Gln554del",
"transcript": "XM_024449005.2",
"protein_id": "XP_024304773.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1661,
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"cdna_start": 2563,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1661_1663delAAC",
"hgvs_p": "p.Gln554del",
"transcript": "XM_047428925.1",
"protein_id": "XP_047284881.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 563,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 3532,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1661_1663delAAC",
"hgvs_p": "p.Gln554del",
"transcript": "XM_047428926.1",
"protein_id": "XP_047284882.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 563,
"cds_start": 1661,
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"cdna_start": 3532,
"cdna_end": null,
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}
],
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"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": null,
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"phylop100way_score": 6.097,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
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"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Nephronophthisis 18",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Nephronophthisis 18",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}