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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: 3-49024511-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49024511&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PP2",
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IMPDH2",
"hgnc_id": 6053,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Val527Ile",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_001410759.1",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000290315",
"hgnc_id": null,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Val1183Ile",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000703936.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4,BS2",
"acmg_score": -4,
"allele_count_reference_population": 21,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1155,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.39142125844955444,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1507,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000884.3",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326739.9",
"protein_coding": true,
"protein_id": "NP_000875.2",
"strand": false,
"transcript": "NM_000884.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1507,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000326739.9",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000884.3",
"protein_coding": true,
"protein_id": "ENSP00000321584.4",
"strand": false,
"transcript": "ENST00000326739.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1194,
"aa_ref": "V",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3804,
"cdna_start": 3728,
"cds_end": null,
"cds_length": 3585,
"cds_start": 3547,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000703936.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000290315",
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Val1183Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515567.1",
"strand": false,
"transcript": "ENST00000703936.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 570,
"aa_ref": "V",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1675,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000937815.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Val559Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607874.1",
"strand": false,
"transcript": "ENST00000937815.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 538,
"aa_ref": "V",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001410759.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Val527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397688.1",
"strand": false,
"transcript": "NM_001410759.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 538,
"aa_ref": "V",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000429182.6",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Val527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393525.2",
"strand": false,
"transcript": "ENST00000429182.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 537,
"aa_ref": "V",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968719.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Val526Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638778.1",
"strand": false,
"transcript": "ENST00000968719.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 534,
"aa_ref": "V",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968723.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1567G>A",
"hgvs_p": "p.Val523Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638782.1",
"strand": false,
"transcript": "ENST00000968723.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 530,
"aa_ref": "V",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000937818.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Val519Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607877.1",
"strand": false,
"transcript": "ENST00000937818.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 526,
"aa_ref": "V",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1543,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000937813.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607872.1",
"strand": false,
"transcript": "ENST00000937813.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 522,
"aa_ref": "V",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000677010.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Val511Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503089.1",
"strand": false,
"transcript": "ENST00000677010.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 520,
"aa_ref": "V",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1525,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881196.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Val509Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551255.1",
"strand": false,
"transcript": "ENST00000881196.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 519,
"aa_ref": "V",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881195.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Val508Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551254.1",
"strand": false,
"transcript": "ENST00000881195.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 519,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968724.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1522G>A",
"hgvs_p": "p.Val508Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638783.1",
"strand": false,
"transcript": "ENST00000968724.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "V",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1648,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001410760.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Val502Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397689.1",
"strand": false,
"transcript": "NM_001410760.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "V",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000678724.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Val502Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503874.1",
"strand": false,
"transcript": "ENST00000678724.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 513,
"aa_ref": "V",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1698,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000937811.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Val502Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607870.1",
"strand": false,
"transcript": "ENST00000937811.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 512,
"aa_ref": "V",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1501,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000937810.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Val501Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607869.1",
"strand": false,
"transcript": "ENST00000937810.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 512,
"aa_ref": "V",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1501,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000937817.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Val501Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607876.1",
"strand": false,
"transcript": "ENST00000937817.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 510,
"aa_ref": "V",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000881190.1",
"gene_hgnc_id": 6053,
"gene_symbol": "IMPDH2",
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Val499Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551249.1",
"strand": false,
"transcript": "ENST00000881190.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 510,
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}