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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: 16-55816931-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=55816931&ref=G&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": "CES1",
"hgnc_id": 1863,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001025195.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1575,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25364378094673157,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1707,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001025195.2",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360526.8",
"protein_coding": true,
"protein_id": "NP_001020366.1",
"strand": false,
"transcript": "NM_001025195.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1707,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000360526.8",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001025195.2",
"protein_coding": true,
"protein_id": "ENSP00000353720.4",
"strand": false,
"transcript": "ENST00000360526.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1704,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000361503.8",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355193.4",
"strand": false,
"transcript": "ENST00000361503.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 566,
"aa_ref": "P",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1701,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000422046.6",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390492.2",
"strand": false,
"transcript": "ENST00000422046.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 590,
"aa_ref": "P",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1773,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905505.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575564.1",
"strand": false,
"transcript": "ENST00000905505.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1761,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905502.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575561.1",
"strand": false,
"transcript": "ENST00000905502.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 585,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1758,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905506.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575565.1",
"strand": false,
"transcript": "ENST00000905506.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1743,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969258.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639317.1",
"strand": false,
"transcript": "ENST00000969258.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 578,
"aa_ref": "P",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1737,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905493.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575552.1",
"strand": false,
"transcript": "ENST00000905493.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1728,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905507.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Pro320Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575566.1",
"strand": false,
"transcript": "ENST00000905507.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 574,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1725,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969257.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Pro320Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639316.1",
"strand": false,
"transcript": "ENST00000969257.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1704,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001025194.2",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020365.1",
"strand": false,
"transcript": "NM_001025194.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1704,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905467.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575526.1",
"strand": false,
"transcript": "ENST00000905467.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 567,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1704,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905504.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575563.1",
"strand": false,
"transcript": "ENST00000905504.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1701,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001266.5",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257.4",
"strand": false,
"transcript": "NM_001266.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 566,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1701,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905508.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575567.1",
"strand": false,
"transcript": "ENST00000905508.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 566,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1701,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969256.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639315.1",
"strand": false,
"transcript": "ENST00000969256.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1950,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1698,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905485.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Pro310Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575544.1",
"strand": false,
"transcript": "ENST00000905485.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 565,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1698,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905490.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Pro312Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575549.1",
"strand": false,
"transcript": "ENST00000905490.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 564,
"aa_ref": "P",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1695,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905496.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Pro313Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575555.1",
"strand": false,
"transcript": "ENST00000905496.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "P",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1692,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905488.1",
"gene_hgnc_id": 1863,
"gene_symbol": "CES1",
"hgvs_c": "c.926C>T",
"hgvs_p": "p.Pro309Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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