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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: 11-93730101-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=93730101&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 93730101,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033395.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7720C>G",
"hgvs_p": "p.Gln2574Glu",
"transcript": "NM_033395.2",
"protein_id": "NP_203753.1",
"transcript_support_level": null,
"aa_start": 2574,
"aa_end": null,
"aa_length": 2601,
"cds_start": 7720,
"cds_end": null,
"cds_length": 7806,
"cdna_start": 7839,
"cdna_end": null,
"cdna_length": 8014,
"mane_select": "ENST00000325212.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7720C>G",
"hgvs_p": "p.Gln2574Glu",
"transcript": "ENST00000325212.11",
"protein_id": "ENSP00000316681.6",
"transcript_support_level": 2,
"aa_start": 2574,
"aa_end": null,
"aa_length": 2601,
"cds_start": 7720,
"cds_end": null,
"cds_length": 7806,
"cdna_start": 7839,
"cdna_end": null,
"cdna_length": 8014,
"mane_select": "NM_033395.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.2260C>G",
"hgvs_p": "p.Gln754Glu",
"transcript": "ENST00000531700.5",
"protein_id": "ENSP00000437323.1",
"transcript_support_level": 2,
"aa_start": 754,
"aa_end": null,
"aa_length": 781,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2717,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7762C>G",
"hgvs_p": "p.Gln2588Glu",
"transcript": "XM_011543047.2",
"protein_id": "XP_011541349.1",
"transcript_support_level": null,
"aa_start": 2588,
"aa_end": null,
"aa_length": 2645,
"cds_start": 7762,
"cds_end": null,
"cds_length": 7938,
"cdna_start": 7881,
"cdna_end": null,
"cdna_length": 8138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7759C>G",
"hgvs_p": "p.Gln2587Glu",
"transcript": "XM_017018470.2",
"protein_id": "XP_016873959.1",
"transcript_support_level": null,
"aa_start": 2587,
"aa_end": null,
"aa_length": 2644,
"cds_start": 7759,
"cds_end": null,
"cds_length": 7935,
"cdna_start": 7878,
"cdna_end": null,
"cdna_length": 8135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7723C>G",
"hgvs_p": "p.Gln2575Glu",
"transcript": "XM_011543048.2",
"protein_id": "XP_011541350.1",
"transcript_support_level": null,
"aa_start": 2575,
"aa_end": null,
"aa_length": 2632,
"cds_start": 7723,
"cds_end": null,
"cds_length": 7899,
"cdna_start": 7842,
"cdna_end": null,
"cdna_length": 8099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7720C>G",
"hgvs_p": "p.Gln2574Glu",
"transcript": "XM_047427788.1",
"protein_id": "XP_047283744.1",
"transcript_support_level": null,
"aa_start": 2574,
"aa_end": null,
"aa_length": 2631,
"cds_start": 7720,
"cds_end": null,
"cds_length": 7896,
"cdna_start": 7839,
"cdna_end": null,
"cdna_length": 8096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7762C>G",
"hgvs_p": "p.Gln2588Glu",
"transcript": "XM_005274366.2",
"protein_id": "XP_005274423.1",
"transcript_support_level": null,
"aa_start": 2588,
"aa_end": null,
"aa_length": 2615,
"cds_start": 7762,
"cds_end": null,
"cds_length": 7848,
"cdna_start": 7881,
"cdna_end": null,
"cdna_length": 8056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7759C>G",
"hgvs_p": "p.Gln2587Glu",
"transcript": "XM_005274367.3",
"protein_id": "XP_005274424.1",
"transcript_support_level": null,
"aa_start": 2587,
"aa_end": null,
"aa_length": 2614,
"cds_start": 7759,
"cds_end": null,
"cds_length": 7845,
"cdna_start": 7878,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7618C>G",
"hgvs_p": "p.Gln2540Glu",
"transcript": "XM_011543049.2",
"protein_id": "XP_011541351.1",
"transcript_support_level": null,
"aa_start": 2540,
"aa_end": null,
"aa_length": 2597,
"cds_start": 7618,
"cds_end": null,
"cds_length": 7794,
"cdna_start": 7737,
"cdna_end": null,
"cdna_length": 7994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7615C>G",
"hgvs_p": "p.Gln2539Glu",
"transcript": "XM_017018471.2",
"protein_id": "XP_016873960.1",
"transcript_support_level": null,
"aa_start": 2539,
"aa_end": null,
"aa_length": 2596,
"cds_start": 7615,
"cds_end": null,
"cds_length": 7791,
"cdna_start": 7734,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7579C>G",
"hgvs_p": "p.Gln2527Glu",
"transcript": "XM_047427789.1",
"protein_id": "XP_047283745.1",
"transcript_support_level": null,
"aa_start": 2527,
"aa_end": null,
"aa_length": 2584,
"cds_start": 7579,
"cds_end": null,
"cds_length": 7755,
"cdna_start": 7698,
"cdna_end": null,
"cdna_length": 7955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7576C>G",
"hgvs_p": "p.Gln2526Glu",
"transcript": "XM_047427790.1",
"protein_id": "XP_047283746.1",
"transcript_support_level": null,
"aa_start": 2526,
"aa_end": null,
"aa_length": 2583,
"cds_start": 7576,
"cds_end": null,
"cds_length": 7752,
"cdna_start": 7695,
"cdna_end": null,
"cdna_length": 7952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7618C>G",
"hgvs_p": "p.Gln2540Glu",
"transcript": "XM_017018472.2",
"protein_id": "XP_016873961.1",
"transcript_support_level": null,
"aa_start": 2540,
"aa_end": null,
"aa_length": 2567,
"cds_start": 7618,
"cds_end": null,
"cds_length": 7704,
"cdna_start": 7737,
"cdna_end": null,
"cdna_length": 7912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7615C>G",
"hgvs_p": "p.Gln2539Glu",
"transcript": "XM_005274368.3",
"protein_id": "XP_005274425.1",
"transcript_support_level": null,
"aa_start": 2539,
"aa_end": null,
"aa_length": 2566,
"cds_start": 7615,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 7734,
"cdna_end": null,
"cdna_length": 7909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7579C>G",
"hgvs_p": "p.Gln2527Glu",
"transcript": "XM_047427791.1",
"protein_id": "XP_047283747.1",
"transcript_support_level": null,
"aa_start": 2527,
"aa_end": null,
"aa_length": 2554,
"cds_start": 7579,
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"cdna_start": 7698,
"cdna_end": null,
"cdna_length": 7873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7576C>G",
"hgvs_p": "p.Gln2526Glu",
"transcript": "XM_047427792.1",
"protein_id": "XP_047283748.1",
"transcript_support_level": null,
"aa_start": 2526,
"aa_end": null,
"aa_length": 2553,
"cds_start": 7576,
"cds_end": null,
"cds_length": 7662,
"cdna_start": 7695,
"cdna_end": null,
"cdna_length": 7870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7063C>G",
"hgvs_p": "p.Gln2355Glu",
"transcript": "XM_017018474.3",
"protein_id": "XP_016873963.1",
"transcript_support_level": null,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2412,
"cds_start": 7063,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 7259,
"cdna_end": null,
"cdna_length": 7516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7063C>G",
"hgvs_p": "p.Gln2355Glu",
"transcript": "XM_047427794.1",
"protein_id": "XP_047283750.1",
"transcript_support_level": null,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2412,
"cds_start": 7063,
"cds_end": null,
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"cdna_start": 7255,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.6226C>G",
"hgvs_p": "p.Gln2076Glu",
"transcript": "XM_011543053.3",
"protein_id": "XP_011541355.1",
"transcript_support_level": null,
"aa_start": 2076,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6226,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6331,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.6226C>G",
"hgvs_p": "p.Gln2076Glu",
"transcript": "XM_047427795.1",
"protein_id": "XP_047283751.1",
"transcript_support_level": null,
"aa_start": 2076,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6226,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6296,
"cdna_end": null,
"cdna_length": 6553,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1D",
"gene_hgnc_id": 28759,
"hgvs_c": "n.*1350G>C",
"hgvs_p": null,
"transcript": "ENST00000323981.6",
"protein_id": "ENSP00000314971.2",
"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": 2540,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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{
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},
{
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},
{
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{
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},
{
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},
{
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],
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},
{
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],
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}
],
"gene_symbol": "CEP295",
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"dbsnp": "rs1048439804",
"frequency_reference_population": 0.000005162363,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000428905,
"gnomad_genomes_af": 0.0000132656,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07049697637557983,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.0966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.848,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033395.2",
"gene_symbol": "CEP295",
"hgnc_id": 29366,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7720C>G",
"hgvs_p": "p.Gln2574Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000323981.6",
"gene_symbol": "TAF1D",
"hgnc_id": 28759,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*1350G>C",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}