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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: 20-25320264-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25320264&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABHD12",
"hgnc_id": 15868,
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_015600.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.929,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7917001247406006,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 398,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1197,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001042472.3",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000339157.10",
"protein_coding": true,
"protein_id": "NP_001035937.1",
"strand": false,
"transcript": "NM_001042472.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 398,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1197,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000339157.10",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042472.3",
"protein_coding": true,
"protein_id": "ENSP00000341408.5",
"strand": false,
"transcript": "ENST00000339157.10",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 404,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1215,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000376542.8",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365725.3",
"strand": false,
"transcript": "ENST00000376542.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1257,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969645.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639704.1",
"strand": false,
"transcript": "ENST00000969645.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 404,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1215,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015600.5",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056415.1",
"strand": false,
"transcript": "NM_015600.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 394,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1185,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851165.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521224.1",
"strand": false,
"transcript": "ENST00000851165.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 388,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 608,
"cds_end": null,
"cds_length": 1167,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938982.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609041.1",
"strand": false,
"transcript": "ENST00000938982.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 370,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 640,
"cds_end": null,
"cds_length": 1113,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938980.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609039.1",
"strand": false,
"transcript": "ENST00000938980.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 329,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 561,
"cds_end": null,
"cds_length": 990,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000969646.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639705.1",
"strand": false,
"transcript": "ENST00000969646.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 250,
"aa_ref": "W",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 313,
"cds_end": null,
"cds_length": 753,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673121.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Trp2Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499839.1",
"strand": false,
"transcript": "ENST00000673121.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 241,
"aa_ref": "W",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 899,
"cds_end": null,
"cds_length": 726,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000672566.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Trp2Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500106.1",
"strand": false,
"transcript": "ENST00000672566.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 186,
"aa_ref": "W",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 615,
"cdna_start": 396,
"cds_end": null,
"cds_length": 561,
"cds_start": 342,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000450393.5",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.342G>T",
"hgvs_p": "p.Trp114Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413311.1",
"strand": false,
"transcript": "ENST00000450393.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 158,
"aa_ref": "W",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 341,
"cds_end": null,
"cds_length": 479,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000491682.5",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Trp2Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459495.1",
"strand": false,
"transcript": "ENST00000491682.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 104,
"aa_ref": "W",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": 495,
"cds_end": null,
"cds_length": 316,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000471287.5",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Trp2Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460950.1",
"strand": false,
"transcript": "ENST00000471287.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 426,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1281,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440087.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296043.1",
"strand": false,
"transcript": "XM_047440087.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 392,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1179,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011529214.3",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527516.1",
"strand": false,
"transcript": "XM_011529214.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 381,
"aa_ref": "W",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 412,
"cds_end": null,
"cds_length": 1146,
"cds_start": 342,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440088.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.342G>T",
"hgvs_p": "p.Trp114Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296044.1",
"strand": false,
"transcript": "XM_047440088.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 353,
"aa_ref": "W",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 412,
"cds_end": null,
"cds_length": 1062,
"cds_start": 342,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440089.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.342G>T",
"hgvs_p": "p.Trp114Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296045.1",
"strand": false,
"transcript": "XM_047440089.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "W",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1056,
"cds_start": 477,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440090.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.477G>T",
"hgvs_p": "p.Trp159Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296046.1",
"strand": false,
"transcript": "XM_047440090.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 269,
"aa_ref": "W",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 346,
"cds_end": null,
"cds_length": 810,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440091.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Trp2Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296047.1",
"strand": false,
"transcript": "XM_047440091.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 269,
"aa_ref": "W",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 459,
"cds_end": null,
"cds_length": 810,
"cds_start": 6,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047440092.1",
"gene_hgnc_id": 15868,
"gene_symbol": "ABHD12",
"hgvs_c": "c.6G>T",
"hgvs_p": "p.Trp2Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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