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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: 20-3223398-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3223398&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITPA",
"hgnc_id": 6176,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Ala216Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001424409.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 43,
"alphamissense_prediction": null,
"alphamissense_score": 0.1147,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inosine triphosphatase deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05412501096725464,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 194,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": 575,
"cds_end": null,
"cds_length": 585,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_033453.4",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380113.8",
"protein_coding": true,
"protein_id": "NP_258412.1",
"strand": true,
"transcript": "NM_033453.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 194,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": 575,
"cds_end": null,
"cds_length": 585,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000380113.8",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Ala174Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033453.4",
"protein_coding": true,
"protein_id": "ENSP00000369456.3",
"strand": true,
"transcript": "ENST00000380113.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 177,
"aa_ref": "A",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 729,
"cdna_start": 509,
"cds_end": null,
"cds_length": 534,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000455664.6",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Ala157Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413282.1",
"strand": true,
"transcript": "ENST00000455664.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 153,
"aa_ref": "A",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": 425,
"cds_end": null,
"cds_length": 462,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000399838.3",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Ala133Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382732.3",
"strand": true,
"transcript": "ENST00000399838.3",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 236,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 987,
"cds_end": null,
"cds_length": 711,
"cds_start": 647,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001424409.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Ala216Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411338.1",
"strand": true,
"transcript": "NM_001424409.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 225,
"aa_ref": "A",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1145,
"cdna_start": 683,
"cds_end": null,
"cds_length": 678,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000900242.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.614C>T",
"hgvs_p": "p.Ala205Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570301.1",
"strand": true,
"transcript": "ENST00000900242.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 208,
"aa_ref": "A",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1033,
"cdna_start": 573,
"cds_end": null,
"cds_length": 627,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000900245.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Ala188Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570304.1",
"strand": true,
"transcript": "ENST00000900245.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 207,
"aa_ref": "A",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1103,
"cdna_start": 636,
"cds_end": null,
"cds_length": 624,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932182.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Ala187Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602241.1",
"strand": true,
"transcript": "ENST00000932182.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 192,
"aa_ref": "A",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": 580,
"cds_end": null,
"cds_length": 579,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000900243.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Ala172Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570302.1",
"strand": true,
"transcript": "ENST00000900243.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 191,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": 576,
"cds_end": null,
"cds_length": 576,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000900244.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Ala171Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570303.1",
"strand": true,
"transcript": "ENST00000900244.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 189,
"aa_ref": "A",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1007,
"cdna_start": 545,
"cds_end": null,
"cds_length": 570,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932185.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602244.1",
"strand": true,
"transcript": "ENST00000932185.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 177,
"aa_ref": "A",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 986,
"cdna_start": 524,
"cds_end": null,
"cds_length": 534,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_181493.4",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Ala157Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_852470.1",
"strand": true,
"transcript": "NM_181493.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 166,
"aa_ref": "A",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 935,
"cdna_start": 473,
"cds_end": null,
"cds_length": 501,
"cds_start": 437,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932186.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ala146Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602245.1",
"strand": true,
"transcript": "ENST00000932186.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 153,
"aa_ref": "A",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 452,
"cds_end": null,
"cds_length": 462,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001267623.2",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Ala133Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254552.1",
"strand": true,
"transcript": "NM_001267623.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 151,
"aa_ref": "A",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 939,
"cdna_start": 467,
"cds_end": null,
"cds_length": 456,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932181.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602240.1",
"strand": true,
"transcript": "ENST00000932181.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 136,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1029,
"cdna_start": 557,
"cds_end": null,
"cds_length": 411,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932180.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602239.1",
"strand": true,
"transcript": "ENST00000932180.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 120,
"aa_ref": "A",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 822,
"cdna_start": 360,
"cds_end": null,
"cds_length": 363,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932184.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Ala100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602243.1",
"strand": true,
"transcript": "ENST00000932184.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 79,
"aa_ref": "A",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": 251,
"cds_end": null,
"cds_length": 240,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000932183.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.176C>T",
"hgvs_p": "p.Ala59Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602242.1",
"strand": true,
"transcript": "ENST00000932183.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 238,
"aa_ref": "L",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": 622,
"cds_end": null,
"cds_length": 717,
"cds_start": 568,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001424408.1",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Leu190Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411337.1",
"strand": true,
"transcript": "NM_001424408.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 110,
"aa_ref": "L",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1040,
"cdna_start": 578,
"cds_end": null,
"cds_length": 333,
"cds_start": 184,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001324236.2",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311165.1",
"strand": true,
"transcript": "NM_001324236.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 110,
"aa_ref": "L",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 813,
"cds_end": null,
"cds_length": 333,
"cds_start": 184,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001324237.2",
"gene_hgnc_id": 6176,
"gene_symbol": "ITPA",
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Leu62Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311166.1",
"strand": true,
"transcript": "NM_001324237.2",
"transcript_support_level": null
},
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