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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: 1-201148730-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201148730&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201148730,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000367330.6",
"consequences": [
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.159-1882G>C",
"hgvs_p": null,
"transcript": "NM_001288565.2",
"protein_id": "NP_001275494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": "ENST00000367330.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.159-1882G>C",
"hgvs_p": null,
"transcript": "ENST00000367330.6",
"protein_id": "ENSP00000356299.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": "NM_001288565.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.159-1882G>C",
"hgvs_p": null,
"transcript": "ENST00000367333.6",
"protein_id": "ENSP00000356302.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.159-1882G>C",
"hgvs_p": null,
"transcript": "ENST00000367334.9",
"protein_id": "ENSP00000356303.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.234-1882G>C",
"hgvs_p": null,
"transcript": "NM_001288571.2",
"protein_id": "NP_001275500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.168-1882G>C",
"hgvs_p": null,
"transcript": "NM_001288570.2",
"protein_id": "NP_001275499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.168-1882G>C",
"hgvs_p": null,
"transcript": "ENST00000367332.5",
"protein_id": "ENSP00000356301.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.159-1882G>C",
"hgvs_p": null,
"transcript": "NM_001288564.2",
"protein_id": "NP_001275493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.159-1882G>C",
"hgvs_p": null,
"transcript": "NM_001288566.2",
"protein_id": "NP_001275495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.159-1882G>C",
"hgvs_p": null,
"transcript": "NM_001288567.2",
"protein_id": "NP_001275496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.159-1882G>C",
"hgvs_p": null,
"transcript": "NM_001288568.2",
"protein_id": "NP_001275497.1",
"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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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "TMEM9",
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"hgvs_c": "c.159-1882G>C",
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"transcript": "NM_001288569.2",
"protein_id": "NP_001275498.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "TMEM9",
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"hgvs_c": "c.159-1882G>C",
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"transcript": "NM_016456.5",
"protein_id": "NP_057540.1",
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"aa_start": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "TMEM9",
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"hgvs_c": "c.159-1882G>C",
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"transcript": "ENST00000485839.6",
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},
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],
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"gene_symbol": "TMEM9",
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"hgvs_c": "c.234-1882G>C",
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"transcript": "ENST00000414605.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMEM9",
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"hgvs_c": "c.159-1861G>C",
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"transcript": "ENST00000455367.5",
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},
{
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],
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"gene_symbol": "TMEM9",
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"hgvs_c": "c.159-1882G>C",
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"transcript": "ENST00000435310.5",
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "TMEM9",
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"hgvs_c": "n.197-1882G>C",
"hgvs_p": null,
"transcript": "ENST00000495205.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "TMEM9",
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"hgvs_c": "n.159-1882G>C",
"hgvs_p": null,
"transcript": "ENST00000497582.5",
"protein_id": "ENSP00000437181.1",
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},
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],
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"gene_symbol": "TMEM9",
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],
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},
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"consequences": [
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],
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.168-1882G>C",
"hgvs_p": null,
"transcript": "XM_011509385.3",
"protein_id": "XP_011507687.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM9",
"gene_hgnc_id": 18823,
"hgvs_c": "c.168-1882G>C",
"hgvs_p": null,
"transcript": "XM_011509386.3",
"protein_id": "XP_011507688.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
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}
],
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"gnomad_genomes_af": 0.342126,
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"gnomad_genomes_ac": 52038,
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"gnomad_genomes_homalt": 9186,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.236,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000367330.6",
"gene_symbol": "TMEM9",
"hgnc_id": 18823,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.159-1882G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}