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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: 6-125889186-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=125889186&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 125889186,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000392477.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "NM_181782.5",
"protein_id": "NP_861447.3",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": "ENST00000392477.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "ENST00000392477.7",
"protein_id": "ENSP00000376269.2",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": "NM_181782.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "ENST00000368357.7",
"protein_id": "ENSP00000357341.3",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 5521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "NM_001199619.2",
"protein_id": "NP_001186548.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "NM_001199620.2",
"protein_id": "NP_001186549.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 6608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1099A>C",
"hgvs_p": "p.Arg367Arg",
"transcript": "NM_001122842.3",
"protein_id": "NP_001116314.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 931,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 6231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.787A>C",
"hgvs_p": "p.Arg263Arg",
"transcript": "NM_001199621.2",
"protein_id": "NP_001186550.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 827,
"cds_start": 787,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.787A>C",
"hgvs_p": "p.Arg263Arg",
"transcript": "ENST00000229634.13",
"protein_id": "ENSP00000229634.9",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 827,
"cds_start": 787,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "XM_005266822.5",
"protein_id": "XP_005266879.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 6391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "XM_006715340.5",
"protein_id": "XP_006715403.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 6413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "XM_017010269.2",
"protein_id": "XP_016865758.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "XM_024446331.2",
"protein_id": "XP_024302099.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg",
"transcript": "XM_047418206.1",
"protein_id": "XP_047274162.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 942,
"cds_start": 1132,
"cds_end": null,
"cds_length": 2829,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 8134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1099A>C",
"hgvs_p": "p.Arg367Arg",
"transcript": "XM_017010270.2",
"protein_id": "XP_016865759.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 931,
"cds_start": 1099,
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"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1099A>C",
"hgvs_p": "p.Arg367Arg",
"transcript": "XM_017010272.3",
"protein_id": "XP_016865761.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 931,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 6349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1099A>C",
"hgvs_p": "p.Arg367Arg",
"transcript": "XM_017010273.3",
"protein_id": "XP_016865762.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 931,
"cds_start": 1099,
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"cdna_start": 1398,
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"cdna_length": 6358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1099A>C",
"hgvs_p": "p.Arg367Arg",
"transcript": "XM_017010274.3",
"protein_id": "XP_016865763.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 931,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 6380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1099A>C",
"hgvs_p": "p.Arg367Arg",
"transcript": "XM_024446332.2",
"protein_id": "XP_024302100.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 931,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 6575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "c.1099A>C",
"hgvs_p": "p.Arg367Arg",
"transcript": "XM_047418207.1",
"protein_id": "XP_047274163.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 931,
"cds_start": 1099,
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"cds_length": 2796,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 8101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"hgvs_c": "n.1304A>C",
"hgvs_p": null,
"transcript": "XR_007059204.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NCOA7",
"gene_hgnc_id": 21081,
"dbsnp": "rs1425665545",
"frequency_reference_population": 0.0000013682492,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136825,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.482,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000392477.7",
"gene_symbol": "NCOA7",
"hgnc_id": 21081,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1132A>C",
"hgvs_p": "p.Arg378Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}