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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: 16-67238959-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67238959&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FHOD1",
"hgnc_id": 17905,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001318202.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC9A5",
"hgnc_id": 11078,
"hgvs_c": "n.774+503C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000564704.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 27,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2641,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2635112404823303,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 388,
"cds_end": null,
"cds_length": 3495,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_013241.3",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258201.9",
"protein_coding": true,
"protein_id": "NP_037373.2",
"strand": false,
"transcript": "NM_013241.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 388,
"cds_end": null,
"cds_length": 3495,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000258201.9",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013241.3",
"protein_coding": true,
"protein_id": "ENSP00000258201.4",
"strand": false,
"transcript": "ENST00000258201.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564704.5",
"gene_hgnc_id": 11078,
"gene_symbol": "SLC9A5",
"hgvs_c": "n.774+503C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000564704.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 659,
"cds_end": null,
"cds_length": 3777,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932114.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Arg200Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602173.1",
"strand": false,
"transcript": "ENST00000932114.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4112,
"cdna_start": 692,
"cds_end": null,
"cds_length": 3765,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910037.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580096.1",
"strand": false,
"transcript": "ENST00000910037.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "R",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 410,
"cds_end": null,
"cds_length": 3600,
"cds_start": 344,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910044.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Arg115Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580103.1",
"strand": false,
"transcript": "ENST00000910044.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 388,
"cds_end": null,
"cds_length": 3573,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318202.2",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305131.1",
"strand": false,
"transcript": "NM_001318202.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 388,
"cds_end": null,
"cds_length": 3573,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910041.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580100.1",
"strand": false,
"transcript": "ENST00000910041.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 422,
"cds_end": null,
"cds_length": 3549,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910039.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580098.1",
"strand": false,
"transcript": "ENST00000910039.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1178,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 388,
"cds_end": null,
"cds_length": 3537,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966997.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637056.1",
"strand": false,
"transcript": "ENST00000966997.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1173,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3847,
"cdna_start": 403,
"cds_end": null,
"cds_length": 3522,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910040.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580099.1",
"strand": false,
"transcript": "ENST00000910040.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 428,
"cds_end": null,
"cds_length": 3492,
"cds_start": 317,
"consequences": [
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],
"exon_count": 22,
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"feature": "ENST00000932112.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602171.1",
"strand": false,
"transcript": "ENST00000932112.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 374,
"cds_end": null,
"cds_length": 3465,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910045.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580104.1",
"strand": false,
"transcript": "ENST00000910045.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 422,
"cds_end": null,
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"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910038.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580097.1",
"strand": false,
"transcript": "ENST00000910038.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 446,
"cds_end": null,
"cds_length": 3387,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910036.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580095.1",
"strand": false,
"transcript": "ENST00000910036.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1110,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 446,
"cds_end": null,
"cds_length": 3333,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910035.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580094.1",
"strand": false,
"transcript": "ENST00000910035.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 388,
"cds_end": null,
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"consequences": [
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],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910042.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580101.1",
"strand": false,
"transcript": "ENST00000910042.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 388,
"cds_end": null,
"cds_length": 3180,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910043.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580102.1",
"strand": false,
"transcript": "ENST00000910043.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 384,
"cds_end": null,
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"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966998.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637057.1",
"strand": false,
"transcript": "ENST00000966998.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 407,
"cds_end": null,
"cds_length": 3090,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000932113.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602172.1",
"strand": false,
"transcript": "ENST00000932113.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "R",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 660,
"cds_end": null,
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