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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: 9-33923015-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33923015&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UBAP2",
"hgnc_id": 14185,
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_018449.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.1154,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "9",
"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": 0.2398228645324707,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4275,
"cdna_start": 3127,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001370062.2",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379238.7",
"protein_coding": true,
"protein_id": "NP_001356991.2",
"strand": false,
"transcript": "NM_001370062.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4275,
"cdna_start": 3127,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000379238.7",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370062.2",
"protein_coding": true,
"protein_id": "ENSP00000368540.2",
"strand": false,
"transcript": "ENST00000379238.7",
"transcript_support_level": 5
},
{
"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": 2673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000379235.5",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "n.1691G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000379235.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1160,
"aa_ref": "S",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 3250,
"cds_end": null,
"cds_length": 3483,
"cds_start": 3146,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000862381.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3146G>A",
"hgvs_p": "p.Ser1049Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532440.1",
"strand": false,
"transcript": "ENST00000862381.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "S",
"aa_start": 1018,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4303,
"cdna_start": 3157,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3053,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000862380.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3053G>A",
"hgvs_p": "p.Ser1018Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532439.1",
"strand": false,
"transcript": "ENST00000862380.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "S",
"aa_start": 1018,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 3274,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3053,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000932762.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3053G>A",
"hgvs_p": "p.Ser1018Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602821.1",
"strand": false,
"transcript": "ENST00000932762.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "S",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 3154,
"cds_end": null,
"cds_length": 3378,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000862374.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3041G>A",
"hgvs_p": "p.Ser1014Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532433.1",
"strand": false,
"transcript": "ENST00000862374.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "S",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4487,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3378,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000932759.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3041G>A",
"hgvs_p": "p.Ser1014Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602818.1",
"strand": false,
"transcript": "ENST00000932759.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "S",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 3237,
"cds_end": null,
"cds_length": 3378,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000932767.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3041G>A",
"hgvs_p": "p.Ser1014Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602826.1",
"strand": false,
"transcript": "ENST00000932767.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "S",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 3111,
"cds_end": null,
"cds_length": 3378,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000956121.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3041G>A",
"hgvs_p": "p.Ser1014Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626180.1",
"strand": false,
"transcript": "ENST00000956121.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "S",
"aa_start": 1014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4445,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3378,
"cds_start": 3041,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000956125.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3041G>A",
"hgvs_p": "p.Ser1014Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626184.1",
"strand": false,
"transcript": "ENST00000956125.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4263,
"cdna_start": 3115,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001370059.2",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356988.2",
"strand": false,
"transcript": "NM_001370059.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4284,
"cdna_start": 3136,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_018449.4",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060919.4",
"strand": false,
"transcript": "NM_018449.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": 3304,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000682239.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507293.1",
"strand": false,
"transcript": "ENST00000682239.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4362,
"cdna_start": 3229,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000684158.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508372.1",
"strand": false,
"transcript": "ENST00000684158.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4286,
"cdna_start": 3140,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000862367.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532427.1",
"strand": false,
"transcript": "ENST00000862367.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4431,
"cdna_start": 3283,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000862372.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532432.1",
"strand": false,
"transcript": "ENST00000862372.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": 3206,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000932760.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602819.1",
"strand": false,
"transcript": "ENST00000932760.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 3215,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000956118.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626177.1",
"strand": false,
"transcript": "ENST00000956118.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "S",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 3257,
"cds_end": null,
"cds_length": 3360,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000956120.1",
"gene_hgnc_id": 14185,
"gene_symbol": "UBAP2",
"hgvs_c": "c.3023G>A",
"hgvs_p": "p.Ser1008Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626179.1",
"strand": false,
"transcript": "ENST00000956120.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "S",
"aa_start": 981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": 3046,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2942,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000862377.1",
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