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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: 6-83223833-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83223833&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 83223833,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002395.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1376C>G",
"hgvs_p": "p.Pro459Arg",
"transcript": "NM_002395.6",
"protein_id": "NP_002386.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 572,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": "ENST00000369705.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002395.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1376C>G",
"hgvs_p": "p.Pro459Arg",
"transcript": "ENST00000369705.4",
"protein_id": "ENSP00000358719.3",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 572,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": "NM_002395.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369705.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1490C>G",
"hgvs_p": "p.Pro497Arg",
"transcript": "ENST00000956348.1",
"protein_id": "ENSP00000626407.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 610,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956348.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Pro477Arg",
"transcript": "ENST00000956344.1",
"protein_id": "ENSP00000626403.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 590,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956344.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1373C>G",
"hgvs_p": "p.Pro458Arg",
"transcript": "ENST00000956342.1",
"protein_id": "ENSP00000626401.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 571,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956342.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1373C>G",
"hgvs_p": "p.Pro458Arg",
"transcript": "ENST00000956343.1",
"protein_id": "ENSP00000626402.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 571,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956343.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1310C>G",
"hgvs_p": "p.Pro437Arg",
"transcript": "ENST00000901911.1",
"protein_id": "ENSP00000571970.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 550,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901911.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1304C>G",
"hgvs_p": "p.Pro435Arg",
"transcript": "ENST00000956347.1",
"protein_id": "ENSP00000626406.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 548,
"cds_start": 1304,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956347.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1376C>G",
"hgvs_p": "p.Pro459Arg",
"transcript": "ENST00000956345.1",
"protein_id": "ENSP00000626404.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 539,
"cds_start": 1376,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956345.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1226C>G",
"hgvs_p": "p.Pro409Arg",
"transcript": "ENST00000901910.1",
"protein_id": "ENSP00000571969.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 522,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901910.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1214C>G",
"hgvs_p": "p.Pro405Arg",
"transcript": "ENST00000956346.1",
"protein_id": "ENSP00000626405.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 518,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956346.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.854C>G",
"hgvs_p": "p.Pro285Arg",
"transcript": "ENST00000901912.1",
"protein_id": "ENSP00000571971.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 398,
"cds_start": 854,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1275+3502C>G",
"hgvs_p": null,
"transcript": "ENST00000901909.1",
"protein_id": "ENSP00000571968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": null,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"hgvs_c": "c.1209+3502C>G",
"hgvs_p": null,
"transcript": "ENST00000901913.1",
"protein_id": "ENSP00000571972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901913.1"
}
],
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"dbsnp": "rs748398096",
"frequency_reference_population": 0.00008054823,
"hom_count_reference_population": 0,
"allele_count_reference_population": 130,
"gnomad_exomes_af": 0.0000807292,
"gnomad_genomes_af": 0.0000788105,
"gnomad_exomes_ac": 118,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9848636388778687,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.854,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9904,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.968,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002395.6",
"gene_symbol": "ME1",
"hgnc_id": 6983,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1376C>G",
"hgvs_p": "p.Pro459Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}