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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: 13-110503855-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110503855&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL4A2",
"hgnc_id": 2203,
"hgvs_c": "c.4147G>A",
"hgvs_p": "p.Gly1383Arg",
"inheritance_mode": "AD",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001846.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "COL4A2-AS1",
"hgnc_id": 40156,
"hgvs_c": "n.187-927C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 7,
"score": 7,
"transcript": "ENST00000417970.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000289010",
"hgnc_id": null,
"hgvs_c": "n.151-5679C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 7,
"score": 7,
"transcript": "ENST00000793035.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.884,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "13",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " intracerebral, susceptibility to,Hemorrhage,Inborn genetic diseases,Porencephaly 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:3 US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9949183464050293,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "G",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6446,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 5139,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001846.4",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4147G>A",
"hgvs_p": "p.Gly1383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360467.7",
"protein_coding": true,
"protein_id": "NP_001837.2",
"strand": true,
"transcript": "NM_001846.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "G",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6446,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 5139,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000360467.7",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4147G>A",
"hgvs_p": "p.Gly1383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001846.4",
"protein_coding": true,
"protein_id": "ENSP00000353654.5",
"strand": true,
"transcript": "ENST00000360467.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1739,
"aa_ref": "G",
"aa_start": 1410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6345,
"cdna_start": 4517,
"cds_end": null,
"cds_length": 5220,
"cds_start": 4228,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000714399.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4228G>A",
"hgvs_p": "p.Gly1410Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519666.1",
"strand": true,
"transcript": "ENST00000714399.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "G",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6333,
"cdna_start": 4323,
"cds_end": null,
"cds_length": 5139,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000400163.8",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4147G>A",
"hgvs_p": "p.Gly1383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383027.4",
"strand": true,
"transcript": "ENST00000400163.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "G",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6221,
"cdna_start": 4393,
"cds_end": null,
"cds_length": 5139,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000907576.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4147G>A",
"hgvs_p": "p.Gly1383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577635.1",
"strand": true,
"transcript": "ENST00000907576.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1707,
"aa_ref": "G",
"aa_start": 1378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": 4264,
"cds_end": null,
"cds_length": 5124,
"cds_start": 4132,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000907577.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4132G>A",
"hgvs_p": "p.Gly1378Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577636.1",
"strand": true,
"transcript": "ENST00000907577.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1699,
"aa_ref": "G",
"aa_start": 1370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6254,
"cdna_start": 4428,
"cds_end": null,
"cds_length": 5100,
"cds_start": 4108,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000907571.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4108G>A",
"hgvs_p": "p.Gly1370Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577630.1",
"strand": true,
"transcript": "ENST00000907571.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "G",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4956,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000480609.2",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4147G>A",
"hgvs_p": "p.Gly1383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497080.2",
"strand": true,
"transcript": "ENST00000480609.2",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1644,
"aa_ref": "G",
"aa_start": 1315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6077,
"cdna_start": 4249,
"cds_end": null,
"cds_length": 4935,
"cds_start": 3943,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000907573.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.3943G>A",
"hgvs_p": "p.Gly1315Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577632.1",
"strand": true,
"transcript": "ENST00000907573.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1638,
"aa_ref": "G",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 4222,
"cds_end": null,
"cds_length": 4917,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000714396.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.3925G>A",
"hgvs_p": "p.Gly1309Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519663.1",
"strand": true,
"transcript": "ENST00000714396.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1613,
"aa_ref": "G",
"aa_start": 1284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5969,
"cdna_start": 4141,
"cds_end": null,
"cds_length": 4842,
"cds_start": 3850,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000907574.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.3850G>A",
"hgvs_p": "p.Gly1284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577633.1",
"strand": true,
"transcript": "ENST00000907574.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "G",
"aa_start": 1383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 4436,
"cds_end": null,
"cds_length": 4410,
"cds_start": 4147,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000649951.2",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4147G>A",
"hgvs_p": "p.Gly1383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497015.2",
"strand": true,
"transcript": "ENST00000649951.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "G",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5362,
"cdna_start": 3534,
"cds_end": null,
"cds_length": 4212,
"cds_start": 3220,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000907572.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.3220G>A",
"hgvs_p": "p.Gly1074Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577631.1",
"strand": true,
"transcript": "ENST00000907572.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1663,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6119,
"cdna_start": null,
"cds_end": null,
"cds_length": 4992,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907575.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.4139-293G>A",
"hgvs_p": null,
"intron_rank": 43,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577634.1",
"strand": true,
"transcript": "ENST00000907575.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000649396.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "n.105G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000649396.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000650225.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "n.1802G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000650225.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000650322.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "n.79G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000650322.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6363,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000714397.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "n.*883G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519664.1",
"strand": true,
"transcript": "ENST00000714397.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6547,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000714398.1",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "n.*1868G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519665.1",
"strand": true,
"transcript": "ENST00000714398.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6363,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000714397.1",
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