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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: 5-146600321-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146600321&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPP2R2B",
"hgnc_id": 9305,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.Asn376Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_181674.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000250407",
"hgnc_id": 58421,
"hgvs_c": "n.247-6648G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000512730.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PPP2R2B-AS2",
"hgnc_id": 58421,
"hgvs_c": "n.247-6648G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NR_188288.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5269,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Neurodevelopmental disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4092177152633667,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10828,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1332,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_181675.4",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.930C>A",
"hgvs_p": "p.Asn310Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394411.9",
"protein_coding": true,
"protein_id": "NP_858061.3",
"strand": false,
"transcript": "NM_181675.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10828,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1332,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000394411.9",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.930C>A",
"hgvs_p": "p.Asn310Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181675.4",
"protein_coding": true,
"protein_id": "ENSP00000377933.3",
"strand": false,
"transcript": "ENST00000394411.9",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1128,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000394414.5",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.Asn376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377936.1",
"strand": false,
"transcript": "ENST00000394414.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10704,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1332,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000394409.7",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.930C>A",
"hgvs_p": "p.Asn310Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377931.4",
"strand": false,
"transcript": "ENST00000394409.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 432,
"aa_ref": "N",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 1299,
"cds_start": 897,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000453001.5",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.897C>A",
"hgvs_p": "p.Asn299Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398779.2",
"strand": false,
"transcript": "ENST00000453001.5",
"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": 1927,
"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": "ENST00000512639.5",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "n.*880C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426599.1",
"strand": false,
"transcript": "ENST00000512639.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"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": "ENST00000530902.5",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "n.1248C>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": "ENST00000530902.5",
"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": 1927,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000512639.5",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "n.*880C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426599.1",
"strand": false,
"transcript": "ENST00000512639.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10958,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1128,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_181674.3",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.Asn376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_858060.2",
"strand": false,
"transcript": "NM_181674.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 501,
"aa_ref": "N",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10917,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001271900.2",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.1104C>A",
"hgvs_p": "p.Asn368Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258829.1",
"strand": false,
"transcript": "NM_001271900.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 501,
"aa_ref": "N",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1104,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000394413.7",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.1104C>A",
"hgvs_p": "p.Asn368Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377935.4",
"strand": false,
"transcript": "ENST00000394413.7",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 449,
"aa_ref": "N",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1350,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001271899.1",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.948C>A",
"hgvs_p": "p.Asn316Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258828.1",
"strand": false,
"transcript": "NM_001271899.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 449,
"aa_ref": "N",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1350,
"cds_start": 948,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000504198.5",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.948C>A",
"hgvs_p": "p.Asn316Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421396.1",
"strand": false,
"transcript": "ENST00000504198.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 446,
"aa_ref": "N",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10764,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 1341,
"cds_start": 939,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_181676.3",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.939C>A",
"hgvs_p": "p.Asn313Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_858062.1",
"strand": false,
"transcript": "NM_181676.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 446,
"aa_ref": "N",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1341,
"cds_start": 939,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000336640.10",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.939C>A",
"hgvs_p": "p.Asn313Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336591.6",
"strand": false,
"transcript": "ENST00000336640.10",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11223,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 1332,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001428277.1",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.930C>A",
"hgvs_p": "p.Asn310Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001415206.1",
"strand": false,
"transcript": "NM_001428277.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10718,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1332,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001428279.1",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.930C>A",
"hgvs_p": "p.Asn310Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001415208.1",
"strand": false,
"transcript": "NM_001428279.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1332,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000885029.1",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.930C>A",
"hgvs_p": "p.Asn310Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555088.1",
"strand": false,
"transcript": "ENST00000885029.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1332,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000885030.1",
"gene_hgnc_id": 9305,
"gene_symbol": "PPP2R2B",
"hgvs_c": "c.930C>A",
"hgvs_p": "p.Asn310Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555089.1",
"strand": false,
"transcript": "ENST00000885030.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1332,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000885031.1",
"gene_hgnc_id": 9305,
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