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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: 2-189011674-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189011674&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189011674,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000090.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4301G>T",
"hgvs_p": "p.Arg1434Leu",
"transcript": "NM_000090.4",
"protein_id": "NP_000081.2",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4301,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 4418,
"cdna_end": null,
"cdna_length": 5490,
"mane_select": "ENST00000304636.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000090.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4301G>T",
"hgvs_p": "p.Arg1434Leu",
"transcript": "ENST00000304636.9",
"protein_id": "ENSP00000304408.4",
"transcript_support_level": 1,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4301,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 4418,
"cdna_end": null,
"cdna_length": 5490,
"mane_select": "NM_000090.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304636.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4202G>T",
"hgvs_p": "p.Arg1401Leu",
"transcript": "ENST00000450867.2",
"protein_id": "ENSP00000415346.2",
"transcript_support_level": 1,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1433,
"cds_start": 4202,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4319,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450867.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4292G>T",
"hgvs_p": "p.Arg1431Leu",
"transcript": "ENST00000879201.1",
"protein_id": "ENSP00000549260.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4292,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4409,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879201.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4256G>T",
"hgvs_p": "p.Arg1419Leu",
"transcript": "ENST00000879198.1",
"protein_id": "ENSP00000549257.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4256,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4373,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879198.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4250G>T",
"hgvs_p": "p.Arg1417Leu",
"transcript": "ENST00000879194.1",
"protein_id": "ENSP00000549253.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1449,
"cds_start": 4250,
"cds_end": null,
"cds_length": 4350,
"cdna_start": 4367,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879194.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4247G>T",
"hgvs_p": "p.Arg1416Leu",
"transcript": "ENST00000879200.1",
"protein_id": "ENSP00000549259.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4247,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 4364,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879200.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4247G>T",
"hgvs_p": "p.Arg1416Leu",
"transcript": "ENST00000879202.1",
"protein_id": "ENSP00000549261.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4247,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 4364,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879202.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4247G>T",
"hgvs_p": "p.Arg1416Leu",
"transcript": "ENST00000957918.1",
"protein_id": "ENSP00000627977.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4247,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 4364,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957918.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4202G>T",
"hgvs_p": "p.Arg1401Leu",
"transcript": "ENST00000879195.1",
"protein_id": "ENSP00000549254.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1433,
"cds_start": 4202,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4319,
"cdna_end": null,
"cdna_length": 5388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879195.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4193G>T",
"hgvs_p": "p.Arg1398Leu",
"transcript": "ENST00000879196.1",
"protein_id": "ENSP00000549255.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1430,
"cds_start": 4193,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4310,
"cdna_end": null,
"cdna_length": 5376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879196.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4193G>T",
"hgvs_p": "p.Arg1398Leu",
"transcript": "ENST00000879197.1",
"protein_id": "ENSP00000549256.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1430,
"cds_start": 4193,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4279,
"cdna_end": null,
"cdna_length": 5349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879197.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4193G>T",
"hgvs_p": "p.Arg1398Leu",
"transcript": "ENST00000957916.1",
"protein_id": "ENSP00000627975.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1430,
"cds_start": 4193,
"cds_end": null,
"cds_length": 4293,
"cdna_start": 4310,
"cdna_end": null,
"cdna_length": 5382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957916.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4181G>T",
"hgvs_p": "p.Arg1394Leu",
"transcript": "ENST00000957917.1",
"protein_id": "ENSP00000627976.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1426,
"cds_start": 4181,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4300,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957917.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4178G>T",
"hgvs_p": "p.Arg1393Leu",
"transcript": "ENST00000879203.1",
"protein_id": "ENSP00000549262.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1425,
"cds_start": 4178,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 4295,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879203.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4157G>T",
"hgvs_p": "p.Arg1386Leu",
"transcript": "ENST00000879199.1",
"protein_id": "ENSP00000549258.1",
"transcript_support_level": null,
"aa_start": 1386,
"aa_end": null,
"aa_length": 1418,
"cds_start": 4157,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 4274,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879199.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4148G>T",
"hgvs_p": "p.Arg1383Leu",
"transcript": "ENST00000713745.1",
"protein_id": "ENSP00000519049.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 1415,
"cds_start": 4148,
"cds_end": null,
"cds_length": 4248,
"cdna_start": 4265,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713745.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "c.4139G>T",
"hgvs_p": "p.Arg1380Leu",
"transcript": "ENST00000713744.1",
"protein_id": "ENSP00000519048.1",
"transcript_support_level": null,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1412,
"cds_start": 4139,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 4256,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL3A1",
"gene_hgnc_id": 2201,
"hgvs_c": "n.1680G>T",
"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": "rs138533702",
"frequency_reference_population": 0.0000012392956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84121e-7,
"gnomad_genomes_af": 0.00000657505,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40648508071899414,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.394,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5265,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.206,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000090.4",
"gene_symbol": "COL3A1",
"hgnc_id": 2201,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4301G>T",
"hgvs_p": "p.Arg1434Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}