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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: 10-246887-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=246887&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZMYND11",
"hgnc_id": 16966,
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006624.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC107984190",
"hgnc_id": null,
"hgvs_c": "n.93-866G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007062025.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.3082,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4549918472766876,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370100.5",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381604.9",
"protein_coding": true,
"protein_id": "NP_001357029.1",
"strand": true,
"transcript": "NM_001370100.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000381604.9",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370100.5",
"protein_coding": true,
"protein_id": "ENSP00000371017.6",
"strand": true,
"transcript": "ENST00000381604.9",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000397962.8",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381053.3",
"strand": true,
"transcript": "ENST00000397962.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 568,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000558098.4",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452959.1",
"strand": true,
"transcript": "ENST00000558098.4",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 567,
"aa_ref": "R",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1069,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000509513.6",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1069C>G",
"hgvs_p": "p.Arg357Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424205.2",
"strand": true,
"transcript": "ENST00000509513.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000381584.6",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "n.*1014C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000370996.2",
"strand": true,
"transcript": "ENST00000381584.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000381584.6",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "n.*1014C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000370996.2",
"strand": true,
"transcript": "ENST00000381584.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000972248.1",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1141C>G",
"hgvs_p": "p.Arg381Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642307.1",
"strand": true,
"transcript": "ENST00000972248.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000397955.7",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1117C>G",
"hgvs_p": "p.Arg373Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381046.3",
"strand": true,
"transcript": "ENST00000397955.7",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000857283.1",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1117C>G",
"hgvs_p": "p.Arg373Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527342.1",
"strand": true,
"transcript": "ENST00000857283.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1117,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000972242.1",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1117C>G",
"hgvs_p": "p.Arg373Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642301.1",
"strand": true,
"transcript": "ENST00000972242.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4085,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370097.3",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357026.1",
"strand": true,
"transcript": "NM_001370097.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4396,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370098.2",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357027.1",
"strand": true,
"transcript": "NM_001370098.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370099.2",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357028.1",
"strand": true,
"transcript": "NM_001370099.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370101.2",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357030.1",
"strand": true,
"transcript": "NM_001370101.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001370102.2",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357031.1",
"strand": true,
"transcript": "NM_001370102.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4295,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006624.7",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006615.2",
"strand": true,
"transcript": "NM_006624.7",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000381591.5",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371003.1",
"strand": true,
"transcript": "ENST00000381591.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000704301.1",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515825.1",
"strand": true,
"transcript": "ENST00000704301.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000857249.1",
"gene_hgnc_id": 16966,
"gene_symbol": "ZMYND11",
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527308.1",
"strand": true,
"transcript": "ENST00000857249.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
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