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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: 20-3213154-TTTCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3213154&ref=TTTCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3213154,
"ref": "TTTCTC",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000380113.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-12_67-8delCTCTT",
"hgvs_p": null,
"transcript": "NM_033453.4",
"protein_id": "NP_258412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": "ENST00000380113.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-14_67-10delTTCTC",
"hgvs_p": null,
"transcript": "ENST00000380113.8",
"protein_id": "ENSP00000369456.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": "NM_033453.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.16-14_16-10delTTCTC",
"hgvs_p": null,
"transcript": "ENST00000455664.6",
"protein_id": "ENSP00000413282.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-830_67-826delTTCTC",
"hgvs_p": null,
"transcript": "ENST00000399838.3",
"protein_id": "ENSP00000382732.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.118-103_118-99delTTCTC",
"hgvs_p": null,
"transcript": "ENST00000609835.5",
"protein_id": null,
"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": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-12_67-8delCTCTT",
"hgvs_p": null,
"transcript": "NM_001424408.1",
"protein_id": "NP_001411337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.193-12_193-8delCTCTT",
"hgvs_p": null,
"transcript": "NM_001424409.1",
"protein_id": "NP_001411338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.16-12_16-8delCTCTT",
"hgvs_p": null,
"transcript": "NM_181493.4",
"protein_id": "NP_852470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-828_67-824delCTCTT",
"hgvs_p": null,
"transcript": "NM_001267623.2",
"protein_id": "NP_001254552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-12_67-8delCTCTT",
"hgvs_p": null,
"transcript": "NM_001324240.2",
"protein_id": "NP_001311169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.-274-101_-274-97delCTCTT",
"hgvs_p": null,
"transcript": "NM_001324236.2",
"protein_id": "NP_001311165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
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"cds_length": 333,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.-271-12_-271-8delCTCTT",
"hgvs_p": null,
"transcript": "NM_001324237.2",
"protein_id": "NP_001311166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.-274-101_-274-97delCTCTT",
"hgvs_p": null,
"transcript": "NM_001324238.2",
"protein_id": "NP_001311167.1",
"transcript_support_level": null,
"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": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "ITPA",
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"hgvs_c": "c.-274-101_-274-97delCTCTT",
"hgvs_p": null,
"transcript": "NM_001351739.2",
"protein_id": "NP_001338668.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.106-14_106-10delTTCTC",
"hgvs_p": null,
"transcript": "ENST00000460550.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.137-14_137-10delTTCTC",
"hgvs_p": null,
"transcript": "ENST00000460676.5",
"protein_id": null,
"transcript_support_level": 3,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.167-14_167-10delTTCTC",
"hgvs_p": null,
"transcript": "ENST00000483354.5",
"protein_id": null,
"transcript_support_level": 3,
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.48-103_48-99delTTCTC",
"hgvs_p": null,
"transcript": "ENST00000490838.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.359-12_359-8delCTCTT",
"hgvs_p": null,
"transcript": "NR_052000.2",
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},
{
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"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.121-12_121-8delCTCTT",
"hgvs_p": null,
"transcript": "NR_052002.2",
"protein_id": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITPA",
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"hgvs_c": "c.193-12_193-8delCTCTT",
"hgvs_p": null,
"transcript": "XM_047440139.1",
"protein_id": "XP_047296095.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-828_67-824delCTCTT",
"hgvs_p": null,
"transcript": "XM_006723565.4",
"protein_id": "XP_006723628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
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"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-12_67-8delCTCTT",
"hgvs_p": null,
"transcript": "XM_011529234.3",
"protein_id": "XP_011527536.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"dbsnp": "rs771313305",
"frequency_reference_population": 0.000032857213,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000301205,
"gnomad_genomes_af": 0.0000591164,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.209,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000380113.8",
"gene_symbol": "ITPA",
"hgnc_id": 6176,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.67-14_67-10delTTCTC",
"hgvs_p": null
}
],
"clinvar_disease": "Inosine triphosphatase deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inosine triphosphatase deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}