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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: 22-36506212-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36506212&ref=G&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": "FOXRED2",
"hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024955.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.126,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2312333583831787,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4906,
"cdna_start": 244,
"cds_end": null,
"cds_length": 2055,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001102371.2",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397224.9",
"protein_coding": true,
"protein_id": "NP_001095841.1",
"strand": false,
"transcript": "NM_001102371.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4906,
"cdna_start": 244,
"cds_end": null,
"cds_length": 2055,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000397224.9",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001102371.2",
"protein_coding": true,
"protein_id": "ENSP00000380401.4",
"strand": false,
"transcript": "ENST00000397224.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 323,
"cds_end": null,
"cds_length": 2055,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000216187.10",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000216187.6",
"strand": false,
"transcript": "ENST00000216187.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 319,
"cds_end": null,
"cds_length": 2055,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000397223.4",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380400.4",
"strand": false,
"transcript": "ENST00000397223.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 765,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 273,
"cds_end": null,
"cds_length": 2298,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000862038.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532097.1",
"strand": false,
"transcript": "ENST00000862038.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 685,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 857,
"cds_end": null,
"cds_length": 2058,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000946934.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616993.1",
"strand": false,
"transcript": "ENST00000946934.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 829,
"cds_end": null,
"cds_length": 2055,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001438722.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425651.1",
"strand": false,
"transcript": "NM_001438722.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 341,
"cds_end": null,
"cds_length": 2055,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024955.6",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079231.4",
"strand": false,
"transcript": "NM_024955.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5640,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 2055,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684868.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510800.1",
"strand": false,
"transcript": "ENST00000684868.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 829,
"cds_end": null,
"cds_length": 2031,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000686024.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508760.1",
"strand": false,
"transcript": "ENST00000686024.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 676,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 244,
"cds_end": null,
"cds_length": 2031,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000689211.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510330.1",
"strand": false,
"transcript": "ENST00000689211.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 676,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 356,
"cds_end": null,
"cds_length": 2031,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000692693.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509182.1",
"strand": false,
"transcript": "ENST00000692693.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 363,
"cds_end": null,
"cds_length": 1794,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000687273.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510722.1",
"strand": false,
"transcript": "ENST00000687273.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1785,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001363041.2",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349970.1",
"strand": false,
"transcript": "NM_001363041.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 594,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4636,
"cdna_start": 244,
"cds_end": null,
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"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001363042.2",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349971.1",
"strand": false,
"transcript": "NM_001363042.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5221,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1785,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001438724.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425653.1",
"strand": false,
"transcript": "NM_001438724.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 244,
"cds_end": null,
"cds_length": 1785,
"cds_start": 211,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000685224.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000508709.1",
"strand": false,
"transcript": "ENST00000685224.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 594,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3662,
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000685612.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508644.1",
"strand": false,
"transcript": "ENST00000685612.1",
"transcript_support_level": null
},
{
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"aa_end": 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": 619,
"cds_end": null,
"cds_length": 1785,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000691242.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509129.1",
"strand": false,
"transcript": "ENST00000691242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 510,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": 281,
"cds_end": null,
"cds_length": 1533,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000688825.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510075.1",
"strand": false,
"transcript": "ENST00000688825.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 510,
"aa_ref": "R",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1533,
"cds_start": 211,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000688870.1",
"gene_hgnc_id": 26264,
"gene_symbol": "FOXRED2",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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