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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: 22-31797697-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31797697&ref=C&alt=A&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": "DEPDC5",
"hgnc_id": 18423,
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001242896.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000285404",
"hgnc_id": null,
"hgvs_c": "c.781C>A",
"hgvs_p": "p.Gln261Lys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000646701.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0593,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10140687227249146,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6554,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 4812,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001242896.3",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651528.2",
"protein_coding": true,
"protein_id": "NP_001229825.1",
"strand": true,
"transcript": "NM_001242896.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6554,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 4812,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000651528.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001242896.3",
"protein_coding": true,
"protein_id": "ENSP00000498382.1",
"strand": true,
"transcript": "ENST00000651528.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 951,
"cds_end": null,
"cds_length": 4812,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000382112.8",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371546.4",
"strand": true,
"transcript": "ENST00000382112.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1575,
"aa_ref": "Q",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5331,
"cdna_start": 883,
"cds_end": null,
"cds_length": 4728,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000433147.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.781C>A",
"hgvs_p": "p.Gln261Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410544.2",
"strand": true,
"transcript": "ENST00000433147.2",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1572,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 948,
"cds_end": null,
"cds_length": 4719,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000400248.7",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383107.1",
"strand": true,
"transcript": "ENST00000400248.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 600,
"aa_ref": "Q",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1803,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000646701.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285404",
"hgvs_c": "c.781C>A",
"hgvs_p": "p.Gln261Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496158.1",
"strand": true,
"transcript": "ENST00000646701.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 559,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1680,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000400242.8",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383101.3",
"strand": true,
"transcript": "ENST00000400242.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000400246.7",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "n.865C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000383105.3",
"strand": true,
"transcript": "ENST00000400246.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1611,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 4836,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915004.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585063.1",
"strand": true,
"transcript": "ENST00000915004.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6437,
"cdna_start": 954,
"cds_end": null,
"cds_length": 4812,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001364318.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351247.1",
"strand": true,
"transcript": "NM_001364318.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6410,
"cdna_start": 954,
"cds_end": null,
"cds_length": 4785,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001136029.4",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129501.1",
"strand": true,
"transcript": "NM_001136029.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5450,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 4785,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000645711.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493489.1",
"strand": true,
"transcript": "ENST00000645711.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5546,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 4785,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915008.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585067.1",
"strand": true,
"transcript": "ENST00000915008.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1589,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5010,
"cdna_start": 872,
"cds_end": null,
"cds_length": 4770,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000645407.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496252.1",
"strand": true,
"transcript": "ENST00000645407.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5353,
"cdna_start": 954,
"cds_end": null,
"cds_length": 4746,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001363852.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350781.1",
"strand": true,
"transcript": "NM_001363852.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6488,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 4746,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001364320.2",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351249.1",
"strand": true,
"transcript": "NM_001364320.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": 957,
"cds_end": null,
"cds_length": 4746,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000400249.7",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383108.3",
"strand": true,
"transcript": "ENST00000400249.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1581,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5383,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 4746,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000644331.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.865C>A",
"hgvs_p": "p.Gln289Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494406.1",
"strand": true,
"transcript": "ENST00000644331.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1575,
"aa_ref": "Q",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": 983,
"cds_end": null,
"cds_length": 4728,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369901.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.781C>A",
"hgvs_p": "p.Gln261Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356830.1",
"strand": true,
"transcript": "NM_001369901.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1575,
"aa_ref": "Q",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5335,
"cdna_start": 870,
"cds_end": null,
"cds_length": 4728,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001369902.1",
"gene_hgnc_id": 18423,
"gene_symbol": "DEPDC5",
"hgvs_c": "c.781C>A",
"hgvs_p": "p.Gln261Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356831.1",
"strand": true,
"transcript": "NM_001369902.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1572,
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