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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: 2-208243460-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208243460&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PP3",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IDH1",
"hgnc_id": 5382,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 0,
"transcript": "NM_005896.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,BS2_Supporting",
"acmg_score": 0,
"allele_count_reference_population": 22,
"alphamissense_prediction": null,
"alphamissense_score": 0.2569,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8187488317489624,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_005896.4",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345146.7",
"protein_coding": true,
"protein_id": "NP_005887.2",
"strand": false,
"transcript": "NM_005896.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000345146.7",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005896.4",
"protein_coding": true,
"protein_id": "ENSP00000260985.2",
"strand": false,
"transcript": "ENST00000345146.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000415913.5",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390265.1",
"strand": false,
"transcript": "ENST00000415913.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000446179.5",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410513.1",
"strand": false,
"transcript": "ENST00000446179.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 432,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1299,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911600.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581659.1",
"strand": false,
"transcript": "ENST00000911600.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282386.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269315.1",
"strand": false,
"transcript": "NM_001282386.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282387.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269316.1",
"strand": false,
"transcript": "NM_001282387.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862219.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532278.1",
"strand": false,
"transcript": "ENST00000862219.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862220.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532279.1",
"strand": false,
"transcript": "ENST00000862220.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862224.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532283.1",
"strand": false,
"transcript": "ENST00000862224.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862226.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532285.1",
"strand": false,
"transcript": "ENST00000862226.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000862227.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532286.1",
"strand": false,
"transcript": "ENST00000862227.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862228.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532287.1",
"strand": false,
"transcript": "ENST00000862228.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000862229.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532288.1",
"strand": false,
"transcript": "ENST00000862229.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911595.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581654.1",
"strand": false,
"transcript": "ENST00000911595.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911597.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581656.1",
"strand": false,
"transcript": "ENST00000911597.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911598.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581657.1",
"strand": false,
"transcript": "ENST00000911598.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911601.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581660.1",
"strand": false,
"transcript": "ENST00000911601.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911602.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581661.1",
"strand": false,
"transcript": "ENST00000911602.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911604.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581663.1",
"strand": false,
"transcript": "ENST00000911604.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 414,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1245,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911605.1",
"gene_hgnc_id": 5382,
"gene_symbol": "IDH1",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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