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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: 6-83223772-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83223772&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 83223772,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002395.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1437C>T",
"hgvs_p": "p.Leu479Leu",
"transcript": "NM_002395.6",
"protein_id": "NP_002386.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 572,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369705.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002395.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1437C>T",
"hgvs_p": "p.Leu479Leu",
"transcript": "ENST00000369705.4",
"protein_id": "ENSP00000358719.3",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 572,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002395.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369705.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1551C>T",
"hgvs_p": "p.Leu517Leu",
"transcript": "ENST00000956348.1",
"protein_id": "ENSP00000626407.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 610,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956348.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1491C>T",
"hgvs_p": "p.Leu497Leu",
"transcript": "ENST00000956344.1",
"protein_id": "ENSP00000626403.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 590,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956344.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1434C>T",
"hgvs_p": "p.Leu478Leu",
"transcript": "ENST00000956342.1",
"protein_id": "ENSP00000626401.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 571,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956342.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1434C>T",
"hgvs_p": "p.Leu478Leu",
"transcript": "ENST00000956343.1",
"protein_id": "ENSP00000626402.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 571,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956343.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1371C>T",
"hgvs_p": "p.Leu457Leu",
"transcript": "ENST00000901911.1",
"protein_id": "ENSP00000571970.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 550,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901911.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1365C>T",
"hgvs_p": "p.Leu455Leu",
"transcript": "ENST00000956347.1",
"protein_id": "ENSP00000626406.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 548,
"cds_start": 1365,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956347.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1437C>T",
"hgvs_p": "p.Leu479Leu",
"transcript": "ENST00000956345.1",
"protein_id": "ENSP00000626404.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 539,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956345.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1287C>T",
"hgvs_p": "p.Leu429Leu",
"transcript": "ENST00000901910.1",
"protein_id": "ENSP00000571969.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 522,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901910.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1275C>T",
"hgvs_p": "p.Leu425Leu",
"transcript": "ENST00000956346.1",
"protein_id": "ENSP00000626405.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 518,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956346.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.915C>T",
"hgvs_p": "p.Leu305Leu",
"transcript": "ENST00000901912.1",
"protein_id": "ENSP00000571971.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 398,
"cds_start": 915,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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+3563C>T",
"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": null,
"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+3563C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901913.1"
}
],
"gene_symbol": "ME1",
"gene_hgnc_id": 6983,
"dbsnp": "rs116402692",
"frequency_reference_population": 0.0010522193,
"hom_count_reference_population": 9,
"allele_count_reference_population": 1698,
"gnomad_exomes_af": 0.000690401,
"gnomad_genomes_af": 0.00452509,
"gnomad_exomes_ac": 1009,
"gnomad_genomes_ac": 689,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.775,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_Moderate,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002395.6",
"gene_symbol": "ME1",
"hgnc_id": 6983,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1437C>T",
"hgvs_p": "p.Leu479Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}