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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: 19-19197545-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19197545&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RFXANK",
"hgnc_id": 9987,
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"inheritance_mode": "AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_001370238.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9955,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.32,
"chr": "19",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "MHC class II deficiency,MHC class II deficiency 2,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.971815824508667,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1376,
"cdna_start": 808,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003721.4",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000303088.9",
"protein_coding": true,
"protein_id": "NP_003712.1",
"strand": true,
"transcript": "NM_003721.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1376,
"cdna_start": 808,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000303088.9",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003721.4",
"protein_coding": true,
"protein_id": "ENSP00000305071.2",
"strand": true,
"transcript": "ENST00000303088.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 708,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000407360.7",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384572.3",
"strand": true,
"transcript": "ENST00000407360.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 238,
"aa_ref": "D",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1325,
"cdna_start": 757,
"cds_end": null,
"cds_length": 717,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000456252.7",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.296A>T",
"hgvs_p": "p.Asp99Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409138.2",
"strand": true,
"transcript": "ENST00000456252.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 237,
"aa_ref": "D",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 491,
"cds_end": null,
"cds_length": 714,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000392324.8",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.293A>T",
"hgvs_p": "p.Asp98Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376138.3",
"strand": true,
"transcript": "ENST00000392324.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 285,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1179,
"cdna_start": 536,
"cds_end": null,
"cds_length": 858,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370238.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357167.1",
"strand": true,
"transcript": "NM_001370238.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 284,
"aa_ref": "D",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 533,
"cds_end": null,
"cds_length": 855,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370237.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357166.1",
"strand": true,
"transcript": "NM_001370237.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1104,
"cdna_start": 536,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370233.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357162.1",
"strand": true,
"transcript": "NM_001370233.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1099,
"cdna_start": 533,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892597.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562656.1",
"strand": true,
"transcript": "ENST00000892597.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 574,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943476.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613535.1",
"strand": true,
"transcript": "ENST00000943476.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 660,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000943477.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613536.1",
"strand": true,
"transcript": "ENST00000943477.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1067,
"cdna_start": 497,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943479.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613538.1",
"strand": true,
"transcript": "ENST00000943479.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 260,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 801,
"cds_end": null,
"cds_length": 783,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943480.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.Asp121Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613539.1",
"strand": true,
"transcript": "ENST00000943480.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "D",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1352,
"cdna_start": 784,
"cds_end": null,
"cds_length": 780,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001370235.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357164.1",
"strand": true,
"transcript": "NM_001370235.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 259,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1101,
"cdna_start": 533,
"cds_end": null,
"cds_length": 780,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370236.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357165.1",
"strand": true,
"transcript": "NM_001370236.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "D",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 716,
"cds_end": null,
"cds_length": 780,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892592.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562651.1",
"strand": true,
"transcript": "ENST00000892592.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "D",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 664,
"cds_end": null,
"cds_length": 780,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892593.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562652.1",
"strand": true,
"transcript": "ENST00000892593.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "D",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 979,
"cds_end": null,
"cds_length": 780,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892594.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562653.1",
"strand": true,
"transcript": "ENST00000892594.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "D",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 780,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892595.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562654.1",
"strand": true,
"transcript": "ENST00000892595.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "D",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1112,
"cdna_start": 544,
"cds_end": null,
"cds_length": 780,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892596.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562655.1",
"strand": true,
"transcript": "ENST00000892596.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 259,
"aa_ref": "D",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1018,
"cdna_start": 450,
"cds_end": null,
"cds_length": 780,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926783.1",
"gene_hgnc_id": 9987,
"gene_symbol": "RFXANK",
"hgvs_c": "c.359A>T",
"hgvs_p": "p.Asp120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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],
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}
]
}