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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: 7-128398562-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128398562&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IMPDH1",
"hgnc_id": 6052,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"inheritance_mode": "AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_000883.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9656,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8674027919769287,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 599,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1800,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000883.4",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338791.11",
"protein_coding": true,
"protein_id": "NP_000874.2",
"strand": false,
"transcript": "NM_000883.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 599,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1800,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000338791.11",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000883.4",
"protein_coding": true,
"protein_id": "ENSP00000345096.6",
"strand": false,
"transcript": "ENST00000338791.11",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1692,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000348127.11",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265385.8",
"strand": false,
"transcript": "ENST00000348127.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1788,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000955327.1",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625386.1",
"strand": false,
"transcript": "ENST00000955327.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1770,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001102605.2",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001096075.1",
"strand": false,
"transcript": "NM_001102605.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1770,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000354269.9",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346219.5",
"strand": false,
"transcript": "ENST00000354269.9",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 588,
"aa_ref": "R",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1767,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000877816.1",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547875.1",
"strand": false,
"transcript": "ENST00000877816.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 566,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": 908,
"cds_end": null,
"cds_length": 1701,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001142576.2",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136048.1",
"strand": false,
"transcript": "NM_001142576.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 566,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 827,
"cds_end": null,
"cds_length": 1701,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000419067.6",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399400.2",
"strand": false,
"transcript": "ENST00000419067.6",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 563,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1692,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_183243.3",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_899066.1",
"strand": false,
"transcript": "NM_183243.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 562,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1689,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000955324.1",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625383.1",
"strand": false,
"transcript": "ENST00000955324.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1674,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955325.1",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625384.1",
"strand": false,
"transcript": "ENST00000955325.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 556,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 862,
"cds_end": null,
"cds_length": 1671,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000917542.1",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587601.1",
"strand": false,
"transcript": "ENST00000917542.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 543,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1632,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877815.1",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547874.1",
"strand": false,
"transcript": "ENST00000877815.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 531,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1596,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877814.1",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547873.1",
"strand": false,
"transcript": "ENST00000877814.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1593,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001304521.2",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291450.1",
"strand": false,
"transcript": "NM_001304521.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1590,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000955326.1",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625385.1",
"strand": false,
"transcript": "ENST00000955326.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1545,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001142573.2",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136045.1",
"strand": false,
"transcript": "NM_001142573.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 513,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 746,
"cds_end": null,
"cds_length": 1542,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000470772.5",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417296.1",
"strand": false,
"transcript": "ENST00000470772.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1530,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001142574.2",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136046.1",
"strand": false,
"transcript": "NM_001142574.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1530,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000480861.5",
"gene_hgnc_id": 6052,
"gene_symbol": "IMPDH1",
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
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