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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: 13-110306944-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110306944&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "COL4A1",
"hgnc_id": 2202,
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001845.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "COL4A2",
"hgnc_id": 2203,
"hgvs_c": "c.-44-916C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000400163.8",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal dominant, intracerebral, pontine, susceptibility to,Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,Brain small vessel disease 1 with or without ocular anomalies,Hemorrhage,Microangiopathy and leukoencephalopathy,Retinal arterial tortuosity",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.33000001311302185,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1669,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6540,
"cdna_start": 214,
"cds_end": null,
"cds_length": 5010,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 52,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001845.6",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375820.10",
"protein_coding": true,
"protein_id": "NP_001836.3",
"strand": false,
"transcript": "NM_001845.6",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1669,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6540,
"cdna_start": 214,
"cds_end": null,
"cds_length": 5010,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 52,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000375820.10",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001845.6",
"protein_coding": true,
"protein_id": "ENSP00000364979.4",
"strand": false,
"transcript": "ENST00000375820.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 519,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 188,
"cds_end": null,
"cds_length": 1560,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000543140.6",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443348.1",
"strand": false,
"transcript": "ENST00000543140.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1667,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6386,
"cdna_start": 214,
"cds_end": null,
"cds_length": 5004,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 52,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000650424.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497477.2",
"strand": false,
"transcript": "ENST00000650424.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1636,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6334,
"cdna_start": 205,
"cds_end": null,
"cds_length": 4911,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933608.1",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603667.1",
"strand": false,
"transcript": "ENST00000933608.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6161,
"cdna_start": 214,
"cds_end": null,
"cds_length": 4734,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000953813.1",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623872.1",
"strand": false,
"transcript": "ENST00000953813.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1567,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5579,
"cdna_start": 217,
"cds_end": null,
"cds_length": 4704,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000953814.1",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623873.1",
"strand": false,
"transcript": "ENST00000953814.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1565,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6172,
"cdna_start": 256,
"cds_end": null,
"cds_length": 4698,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933607.1",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603666.1",
"strand": false,
"transcript": "ENST00000933607.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1554,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6240,
"cdna_start": 259,
"cds_end": null,
"cds_length": 4665,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000714330.1",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519606.1",
"strand": false,
"transcript": "ENST00000714330.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 519,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1560,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001303110.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290039.1",
"strand": false,
"transcript": "NM_001303110.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1365,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000647797.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497756.2",
"strand": false,
"transcript": "ENST00000647797.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 217,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 836,
"cdna_start": 214,
"cds_end": null,
"cds_length": 654,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648966.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497533.2",
"strand": false,
"transcript": "ENST00000648966.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 188,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": 214,
"cds_end": null,
"cds_length": 567,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000649484.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497355.2",
"strand": false,
"transcript": "ENST00000649484.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 71,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 467,
"cdna_start": 214,
"cds_end": null,
"cds_length": 216,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648989.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498187.2",
"strand": false,
"transcript": "ENST00000648989.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 60,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 214,
"cds_end": null,
"cds_length": 183,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648695.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497713.2",
"strand": false,
"transcript": "ENST00000648695.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 57,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 214,
"cds_end": null,
"cds_length": 174,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000650566.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498007.2",
"strand": false,
"transcript": "ENST00000650566.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 52,
"aa_ref": "K",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 214,
"cds_end": null,
"cds_length": 159,
"cds_start": 84,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000650115.2",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "c.84G>A",
"hgvs_p": "p.Lys28Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498030.2",
"strand": false,
"transcript": "ENST00000650115.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1712,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6333,
"cdna_start": null,
"cds_end": null,
"cds_length": 5139,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400163.8",
"gene_hgnc_id": 2203,
"gene_symbol": "COL4A2",
"hgvs_c": "c.-44-916C>T",
"hgvs_p": null,
"intron_rank": 1,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000649738.1",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "n.214G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000649738.1",
"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": 6371,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 51,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000714329.1",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "n.84G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519605.1",
"strand": false,
"transcript": "ENST00000714329.1",
"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": 6423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 51,
"exon_rank": 1,
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"feature": "ENST00000714331.1",
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"hgvs_c": "n.84G>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000519607.1",
"strand": false,
"transcript": "ENST00000714331.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.983707386155842,
"dbsnp": "rs534258213",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.0000065658155,
"gene_hgnc_id": 2202,
"gene_symbol": "COL4A1",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656582,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Hemorrhage, intracerebral, susceptibility to;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant;Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome;Retinal arterial tortuosity;Brain small vessel disease 1 with or without ocular anomalies",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.274,
"pos": 110306944,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.6959999799728394,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001845.6"
}
]
}