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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: 2-188995402-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=188995402&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "COL3A1",
"hgnc_id": 2201,
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000090.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "MIR3606",
"hgnc_id": 38881,
"hgvs_c": "n.-228C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_037401.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5490,
"cdna_start": null,
"cds_end": null,
"cds_length": 4401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000090.4",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304636.9",
"protein_coding": true,
"protein_id": "NP_000081.2",
"strand": true,
"transcript": "NM_000090.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5490,
"cdna_start": null,
"cds_end": null,
"cds_length": 4401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304636.9",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000090.4",
"protein_coding": true,
"protein_id": "ENSP00000304408.4",
"strand": true,
"transcript": "ENST00000304636.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5391,
"cdna_start": null,
"cds_end": null,
"cds_length": 4302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450867.2",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1411-290C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415346.2",
"strand": true,
"transcript": "ENST00000450867.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4787,
"cdna_start": null,
"cds_end": null,
"cds_length": 4392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879201.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1501-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549260.1",
"strand": true,
"transcript": "ENST00000879201.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4757,
"cdna_start": null,
"cds_end": null,
"cds_length": 4356,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879198.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1465-290C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549257.1",
"strand": true,
"transcript": "ENST00000879198.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5436,
"cdna_start": null,
"cds_end": null,
"cds_length": 4350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879194.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1459-290C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549253.1",
"strand": true,
"transcript": "ENST00000879194.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4742,
"cdna_start": null,
"cds_end": null,
"cds_length": 4347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879200.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549259.1",
"strand": true,
"transcript": "ENST00000879200.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": null,
"cds_end": null,
"cds_length": 4347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879202.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549261.1",
"strand": true,
"transcript": "ENST00000879202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": null,
"cds_end": null,
"cds_length": 4347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957918.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1456-290C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627977.1",
"strand": true,
"transcript": "ENST00000957918.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5388,
"cdna_start": null,
"cds_end": null,
"cds_length": 4302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879195.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549254.1",
"strand": true,
"transcript": "ENST00000879195.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1430,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5376,
"cdna_start": null,
"cds_end": null,
"cds_length": 4293,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879196.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1402-290C>G",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549255.1",
"strand": true,
"transcript": "ENST00000879196.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5349,
"cdna_start": null,
"cds_end": null,
"cds_length": 4293,
"cds_start": null,
"consequences": [
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],
"exon_count": 50,
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"feature": "ENST00000879197.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
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"intron_rank": 21,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549256.1",
"strand": true,
"transcript": "ENST00000879197.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 50,
"exon_rank": null,
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"feature": "ENST00000957916.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627975.1",
"strand": true,
"transcript": "ENST00000957916.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5369,
"cdna_start": null,
"cds_end": null,
"cds_length": 4281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957917.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627976.1",
"strand": true,
"transcript": "ENST00000957917.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4428,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879203.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549262.1",
"strand": true,
"transcript": "ENST00000879203.1",
"transcript_support_level": null
},
{
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"aa_length": 1418,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": null,
"cds_end": null,
"cds_length": 4257,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879199.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1366-290C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549258.1",
"strand": true,
"transcript": "ENST00000879199.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5337,
"cdna_start": null,
"cds_end": null,
"cds_length": 4248,
"cds_start": null,
"consequences": [
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],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713745.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000519049.1",
"strand": true,
"transcript": "ENST00000713745.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713744.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1510-290C>G",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519048.1",
"strand": true,
"transcript": "ENST00000713744.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "miRNA",
"canonical": false,
"cdna_end": null,
"cdna_length": 63,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637672.1",
"gene_hgnc_id": 38881,
"gene_symbol": "MIR3606",
"hgvs_c": "n.-228C>G",
"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": "ENST00000637672.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 63,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_037401.1",
"gene_hgnc_id": 38881,
"gene_symbol": "MIR3606",
"hgvs_c": "n.-228C>G",
"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": "NR_037401.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "miRNA",
"canonical": null,
"cdna_end": null,
"cdna_length": 21,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "unassigned_transcript_523",
"gene_hgnc_id": 38881,
"gene_symbol": "MIR3606",
"hgvs_c": "n.-243C>G",
"hgvs_p": null,
"intron_rank": null,
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}