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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: 12-94333527-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=94333527&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 94333527,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000397809.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "NM_016122.3",
"protein_id": "NP_057206.2",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": "ENST00000397809.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000397809.10",
"protein_id": "ENSP00000380911.4",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": "NM_016122.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "ENST00000339839.9",
"protein_id": "ENSP00000344655.5",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 3130,
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "n.1433G>A",
"hgvs_p": null,
"transcript": "ENST00000547232.5",
"protein_id": "ENSP00000447783.1",
"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": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "NM_001042399.2",
"protein_id": "NP_001035858.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "NM_001346457.2",
"protein_id": "NP_001333386.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "NM_001368037.1",
"protein_id": "NP_001354966.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "NM_001368038.1",
"protein_id": "NP_001354967.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Arg436Gln",
"transcript": "NM_001368041.1",
"protein_id": "NP_001354970.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 626,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407Gln",
"transcript": "NM_001346458.2",
"protein_id": "NP_001333387.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 597,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407Gln",
"transcript": "NM_001346459.2",
"protein_id": "NP_001333388.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 597,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407Gln",
"transcript": "NM_001368039.1",
"protein_id": "NP_001354968.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 597,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407Gln",
"transcript": "NM_001368040.1",
"protein_id": "NP_001354969.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 597,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "XM_011538424.3",
"protein_id": "XP_011536726.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
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"cds_start": 1532,
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"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "XM_017019385.3",
"protein_id": "XP_016874874.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "XM_017019386.3",
"protein_id": "XP_016874875.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
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"cdna_start": 1997,
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"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "XM_047428922.1",
"protein_id": "XP_047284878.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"transcript": "XM_047428923.1",
"protein_id": "XP_047284879.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 701,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 8030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382Gln",
"transcript": "XM_017019389.3",
"protein_id": "XP_016874878.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
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"cds_start": 1145,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373Gln",
"transcript": "XM_024449005.2",
"protein_id": "XP_024304773.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 563,
"cds_start": 1118,
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"cdna_start": 2018,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373Gln",
"transcript": "XM_047428925.1",
"protein_id": "XP_047284881.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 563,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.1118G>A",
"hgvs_p": "p.Arg373Gln",
"transcript": "XM_047428926.1",
"protein_id": "XP_047284882.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 563,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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{
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],
"clinvar_disease": "Nephronophthisis 18,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Nephronophthisis 18|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}