← Back to variant description
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: 2-189010674-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189010674&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189010674,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000090.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4038T>C",
"hgvs_p": "p.Pro1346Pro",
"transcript": "NM_000090.4",
"protein_id": "NP_000081.2",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 4155,
"cdna_end": null,
"cdna_length": 5490,
"mane_select": "ENST00000304636.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000090.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4038T>C",
"hgvs_p": "p.Pro1346Pro",
"transcript": "ENST00000304636.9",
"protein_id": "ENSP00000304408.4",
"transcript_support_level": 1,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 4155,
"cdna_end": null,
"cdna_length": 5490,
"mane_select": "NM_000090.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304636.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3939T>C",
"hgvs_p": "p.Pro1313Pro",
"transcript": "ENST00000450867.2",
"protein_id": "ENSP00000415346.2",
"transcript_support_level": 1,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3939,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4056,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450867.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4029T>C",
"hgvs_p": "p.Pro1343Pro",
"transcript": "ENST00000879201.1",
"protein_id": "ENSP00000549260.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4029,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4146,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879201.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3993T>C",
"hgvs_p": "p.Pro1331Pro",
"transcript": "ENST00000879198.1",
"protein_id": "ENSP00000549257.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3993,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4110,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879198.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3987T>C",
"hgvs_p": "p.Pro1329Pro",
"transcript": "ENST00000879194.1",
"protein_id": "ENSP00000549253.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1449,
"cds_start": 3987,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 4104,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879194.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3984T>C",
"hgvs_p": "p.Pro1328Pro",
"transcript": "ENST00000879200.1",
"protein_id": "ENSP00000549259.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3984,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879200.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3984T>C",
"hgvs_p": "p.Pro1328Pro",
"transcript": "ENST00000879202.1",
"protein_id": "ENSP00000549261.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3984,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879202.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3984T>C",
"hgvs_p": "p.Pro1328Pro",
"transcript": "ENST00000957918.1",
"protein_id": "ENSP00000627977.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3984,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957918.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3939T>C",
"hgvs_p": "p.Pro1313Pro",
"transcript": "ENST00000879195.1",
"protein_id": "ENSP00000549254.1",
"transcript_support_level": null,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1433,
"cds_start": 3939,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4056,
"cdna_end": null,
"cdna_length": 5388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879195.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3930T>C",
"hgvs_p": "p.Pro1310Pro",
"transcript": "ENST00000879196.1",
"protein_id": "ENSP00000549255.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3930,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4047,
"cdna_end": null,
"cdna_length": 5376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879196.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3930T>C",
"hgvs_p": "p.Pro1310Pro",
"transcript": "ENST00000879197.1",
"protein_id": "ENSP00000549256.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3930,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4016,
"cdna_end": null,
"cdna_length": 5349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879197.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3930T>C",
"hgvs_p": "p.Pro1310Pro",
"transcript": "ENST00000957916.1",
"protein_id": "ENSP00000627975.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3930,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4047,
"cdna_end": null,
"cdna_length": 5382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957916.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3918T>C",
"hgvs_p": "p.Pro1306Pro",
"transcript": "ENST00000957917.1",
"protein_id": "ENSP00000627976.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3918,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4037,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957917.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3915T>C",
"hgvs_p": "p.Pro1305Pro",
"transcript": "ENST00000879203.1",
"protein_id": "ENSP00000549262.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1425,
"cds_start": 3915,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 4032,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879203.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3894T>C",
"hgvs_p": "p.Pro1298Pro",
"transcript": "ENST00000879199.1",
"protein_id": "ENSP00000549258.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1418,
"cds_start": 3894,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 4011,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879199.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3885T>C",
"hgvs_p": "p.Pro1295Pro",
"transcript": "ENST00000713745.1",
"protein_id": "ENSP00000519049.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3885,
"cds_end": null,
"cds_length": 4248,
"cdna_start": 4002,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713745.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.3876T>C",
"hgvs_p": "p.Pro1292Pro",
"transcript": "ENST00000713744.1",
"protein_id": "ENSP00000519048.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3876,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 3993,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713744.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "n.1417T>C",
"hgvs_p": null,
"transcript": "ENST00000487010.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487010.1"
}
],
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"dbsnp": "rs113753099",
"frequency_reference_population": 0.000014869188,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000136814,
"gnomad_genomes_af": 0.000026274,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.19,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_000090.4",
"gene_symbol": "COL3A1",
"hgnc_id": 2201,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4038T>C",
"hgvs_p": "p.Pro1346Pro"
}
],
"clinvar_disease": " type 4,Ehlers-Danlos syndrome,Familial thoracic aortic aneurysm and aortic dissection,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Ehlers-Danlos syndrome, type 4|Familial thoracic aortic aneurysm and aortic dissection|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}