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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: 22-20973825-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20973825&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "AIFM3",
"hgnc_id": 26398,
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_144704.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 605,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1818,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386814.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000440238.4",
"protein_coding": true,
"protein_id": "NP_001373743.1",
"strand": true,
"transcript": "NM_001386814.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 605,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1818,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000440238.4",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386814.1",
"protein_coding": true,
"protein_id": "ENSP00000390798.2",
"strand": true,
"transcript": "ENST00000440238.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1797,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000399163.6",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382116.2",
"strand": true,
"transcript": "ENST00000399163.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 605,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 489,
"cds_end": null,
"cds_length": 1818,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_144704.3",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653305.1",
"strand": true,
"transcript": "NM_144704.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 605,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1818,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000399167.6",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382120.2",
"strand": true,
"transcript": "ENST00000399167.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 605,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1818,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961526.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631585.1",
"strand": true,
"transcript": "ENST00000961526.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 604,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1815,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001146288.2",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139760.1",
"strand": true,
"transcript": "NM_001146288.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 604,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 520,
"cds_end": null,
"cds_length": 1815,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000405089.5",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385800.1",
"strand": true,
"transcript": "ENST00000405089.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 603,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1812,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961517.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631576.1",
"strand": true,
"transcript": "ENST00000961517.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 601,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1806,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884445.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554504.1",
"strand": true,
"transcript": "ENST00000884445.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 599,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 744,
"cds_end": null,
"cds_length": 1800,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000884442.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554501.1",
"strand": true,
"transcript": "ENST00000884442.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 489,
"cds_end": null,
"cds_length": 1797,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001018060.3",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018070.1",
"strand": true,
"transcript": "NM_001018060.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1797,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683034.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507958.1",
"strand": true,
"transcript": "ENST00000683034.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 779,
"cds_end": null,
"cds_length": 1797,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884440.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554499.1",
"strand": true,
"transcript": "ENST00000884440.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1797,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000884447.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554506.1",
"strand": true,
"transcript": "ENST00000884447.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1797,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000884450.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554509.1",
"strand": true,
"transcript": "ENST00000884450.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2874,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1797,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000884451.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554510.1",
"strand": true,
"transcript": "ENST00000884451.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1797,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961520.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631579.1",
"strand": true,
"transcript": "ENST00000961520.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1794,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961519.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631578.1",
"strand": true,
"transcript": "ENST00000961519.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 596,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 526,
"cds_end": null,
"cds_length": 1791,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000434714.6",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399657.3",
"strand": true,
"transcript": "ENST00000434714.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 596,
"aa_ref": "L",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1791,
"cds_start": 313,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000884441.1",
"gene_hgnc_id": 26398,
"gene_symbol": "AIFM3",
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