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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: 17-74866833-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74866833&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FDXR",
"hgnc_id": 3642,
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001258012.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.8474,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Auditory neuropathy-optic atrophy syndrome,FDXR-related disorder,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:3 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9037635922431946,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "P",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1476,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024417.5",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000293195.10",
"protein_coding": true,
"protein_id": "NP_077728.3",
"strand": false,
"transcript": "NM_024417.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 491,
"aa_ref": "P",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1476,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000293195.10",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024417.5",
"protein_coding": true,
"protein_id": "ENSP00000293195.5",
"strand": false,
"transcript": "ENST00000293195.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 497,
"aa_ref": "P",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 238,
"cds_end": null,
"cds_length": 1494,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000581530.5",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462972.1",
"strand": false,
"transcript": "ENST00000581530.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000578473.5",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "n.909C>T",
"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": "ENST00000578473.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 540,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 380,
"cds_end": null,
"cds_length": 1623,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933581.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603640.1",
"strand": false,
"transcript": "ENST00000933581.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1605,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001258012.4",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244941.2",
"strand": false,
"transcript": "NM_001258012.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 437,
"cds_end": null,
"cds_length": 1605,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000442102.6",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416515.2",
"strand": false,
"transcript": "ENST00000442102.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 523,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1572,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946597.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Pro106Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616656.1",
"strand": false,
"transcript": "ENST00000946597.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 522,
"aa_ref": "P",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1569,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001258013.4",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244942.2",
"strand": false,
"transcript": "NM_001258013.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 522,
"aa_ref": "P",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 346,
"cds_end": null,
"cds_length": 1569,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000413947.6",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408595.2",
"strand": false,
"transcript": "ENST00000413947.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 519,
"aa_ref": "P",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 251,
"cds_end": null,
"cds_length": 1560,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946595.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616654.1",
"strand": false,
"transcript": "ENST00000946595.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 517,
"aa_ref": "P",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1554,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946589.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616648.1",
"strand": false,
"transcript": "ENST00000946589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 507,
"aa_ref": "P",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1524,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946592.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Pro90Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616651.1",
"strand": false,
"transcript": "ENST00000946592.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 501,
"aa_ref": "P",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1506,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933578.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603637.1",
"strand": false,
"transcript": "ENST00000933578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 498,
"aa_ref": "P",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 254,
"cds_end": null,
"cds_length": 1497,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868980.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Pro75Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539039.1",
"strand": false,
"transcript": "ENST00000868980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 497,
"aa_ref": "P",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1494,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004110.6",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004101.3",
"strand": false,
"transcript": "NM_004110.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 493,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 380,
"cds_end": null,
"cds_length": 1482,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946596.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616655.1",
"strand": false,
"transcript": "ENST00000946596.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 492,
"aa_ref": "P",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 319,
"cds_end": null,
"cds_length": 1479,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868974.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Pro75Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539033.1",
"strand": false,
"transcript": "ENST00000868974.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 490,
"aa_ref": "P",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 264,
"cds_end": null,
"cds_length": 1473,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868979.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Pro75Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539038.1",
"strand": false,
"transcript": "ENST00000868979.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 490,
"aa_ref": "P",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 298,
"cds_end": null,
"cds_length": 1473,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933576.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603635.1",
"strand": false,
"transcript": "ENST00000933576.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 269,
"cds_end": null,
"cds_length": 1470,
"cds_start": 221,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868978.1",
"gene_hgnc_id": 3642,
"gene_symbol": "FDXR",
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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