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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: 6-169773059-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169773059&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169773059,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000366773.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1234-260A>G",
"hgvs_p": null,
"transcript": "NM_018341.3",
"protein_id": "NP_060811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "ENST00000366773.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1234-260A>G",
"hgvs_p": null,
"transcript": "ENST00000366773.8",
"protein_id": "ENSP00000355735.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": -4,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "NM_018341.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1234-260A>G",
"hgvs_p": null,
"transcript": "ENST00000418781.7",
"protein_id": "ENSP00000397661.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1841,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "n.16A>G",
"hgvs_p": null,
"transcript": "ENST00000492738.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1234-260A>G",
"hgvs_p": null,
"transcript": "NM_001278531.2",
"protein_id": "NP_001265460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1234-260A>G",
"hgvs_p": null,
"transcript": "ENST00000366772.6",
"protein_id": "ENSP00000355734.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1234-260A>G",
"hgvs_p": null,
"transcript": "NM_001278533.2",
"protein_id": "NP_001265462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.856-260A>G",
"hgvs_p": null,
"transcript": "NM_001278532.2",
"protein_id": "NP_001265461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.856-260A>G",
"hgvs_p": null,
"transcript": "ENST00000392095.8",
"protein_id": "ENSP00000375945.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.826-260A>G",
"hgvs_p": null,
"transcript": "NM_001410957.1",
"protein_id": "NP_001397886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.826-260A>G",
"hgvs_p": null,
"transcript": "ENST00000588451.1",
"protein_id": "ENSP00000468240.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "n.1332-260A>G",
"hgvs_p": null,
"transcript": "ENST00000366771.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1204-260A>G",
"hgvs_p": null,
"transcript": "XM_011535938.4",
"protein_id": "XP_011534240.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 668,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1204-260A>G",
"hgvs_p": null,
"transcript": "XM_047419018.1",
"protein_id": "XP_047274974.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
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"intron_rank": 12,
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"gene_symbol": "ERMARD",
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"hgvs_c": "c.1234-260A>G",
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"transcript": "XM_047419019.1",
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.895-260A>G",
"hgvs_p": null,
"transcript": "XM_017011030.2",
"protein_id": "XP_016866519.1",
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},
{
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],
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"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.895-260A>G",
"hgvs_p": null,
"transcript": "XM_017011031.2",
"protein_id": "XP_016866520.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.856-260A>G",
"hgvs_p": null,
"transcript": "XM_011535940.3",
"protein_id": "XP_011534242.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.856-260A>G",
"hgvs_p": null,
"transcript": "XM_047419020.1",
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},
{
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],
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"gene_symbol": "ERMARD",
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},
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],
"exon_rank": null,
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"gene_symbol": "ERMARD",
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"hgvs_c": "c.856-260A>G",
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"protein_id": "XP_047274979.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1234-260A>G",
"hgvs_p": null,
"transcript": "XM_047419024.1",
"protein_id": "XP_047274980.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.856-260A>G",
"hgvs_p": null,
"transcript": "XM_047419025.1",
"protein_id": "XP_047274981.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1502,
"mane_select": null,
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"feature": null
}
],
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"dbsnp": "rs4145078",
"frequency_reference_population": 0.25487497,
"hom_count_reference_population": 13598,
"allele_count_reference_population": 96304,
"gnomad_exomes_af": 0.234893,
"gnomad_genomes_af": 0.284752,
"gnomad_exomes_ac": 53184,
"gnomad_genomes_ac": 43120,
"gnomad_exomes_homalt": 6811,
"gnomad_genomes_homalt": 6787,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.628,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000366773.8",
"gene_symbol": "ERMARD",
"hgnc_id": 21056,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1234-260A>G",
"hgvs_p": null
}
],
"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
}