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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: 6-32845607-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32845607&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TAP1",
"hgnc_id": 43,
"hgvs_c": "c.2219T>C",
"hgvs_p": "p.Val740Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000593.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PSMB9",
"hgnc_id": 9546,
"hgvs_c": "c.-10+1333A>G",
"hgvs_p": null,
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000395330.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "PSMB8-AS1",
"hgnc_id": 39758,
"hgvs_c": "n.927A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000412095.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1598,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "MHC class I deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.43358314037323,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 748,
"aa_ref": "V",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2247,
"cds_start": 2219,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000593.6",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2219T>C",
"hgvs_p": "p.Val740Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354258.5",
"protein_coding": true,
"protein_id": "NP_000584.3",
"strand": false,
"transcript": "NM_000593.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 748,
"aa_ref": "V",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 2287,
"cds_end": null,
"cds_length": 2247,
"cds_start": 2219,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000354258.5",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2219T>C",
"hgvs_p": "p.Val740Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000593.6",
"protein_coding": true,
"protein_id": "ENSP00000346206.5",
"strand": false,
"transcript": "ENST00000354258.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 829,
"aa_ref": "C",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 2395,
"cds_end": null,
"cds_length": 2490,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000698423.1",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2314T>C",
"hgvs_p": "p.Cys772Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513711.1",
"strand": false,
"transcript": "ENST00000698423.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 752,
"aa_ref": "V",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 2283,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000920268.1",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2231T>C",
"hgvs_p": "p.Val744Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590327.1",
"strand": false,
"transcript": "ENST00000920268.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 742,
"aa_ref": "V",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2201,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000875705.1",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2201T>C",
"hgvs_p": "p.Val734Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545764.1",
"strand": false,
"transcript": "ENST00000875705.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 713,
"aa_ref": "V",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2142,
"cds_start": 2114,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000875704.1",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2114T>C",
"hgvs_p": "p.Val705Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545763.1",
"strand": false,
"transcript": "ENST00000875704.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 705,
"aa_ref": "V",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2118,
"cds_start": 2090,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000698424.1",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2090T>C",
"hgvs_p": "p.Val697Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513712.1",
"strand": false,
"transcript": "ENST00000698424.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 690,
"aa_ref": "V",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 2427,
"cds_end": null,
"cds_length": 2073,
"cds_start": 2045,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000920267.1",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2045T>C",
"hgvs_p": "p.Val682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590326.1",
"strand": false,
"transcript": "ENST00000920267.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 2058,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000698422.1",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2030T>C",
"hgvs_p": "p.Val677Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513710.1",
"strand": false,
"transcript": "ENST00000698422.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 682,
"aa_ref": "V",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2049,
"cds_start": 2021,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000875706.1",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.2021T>C",
"hgvs_p": "p.Val674Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545765.1",
"strand": false,
"transcript": "ENST00000875706.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 547,
"aa_ref": "V",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001292022.2",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Val539Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278951.1",
"strand": false,
"transcript": "NM_001292022.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 263,
"aa_ref": "V",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 944,
"cds_end": null,
"cds_length": 792,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643049.2",
"gene_hgnc_id": 43,
"gene_symbol": "TAP1",
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Val255Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494148.2",
"strand": false,
"transcript": "ENST00000643049.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 196,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": null,
"cds_end": null,
"cds_length": 591,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395330.6",
"gene_hgnc_id": 9546,
"gene_symbol": "PSMB9",
"hgvs_c": "c.-10+1333A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378739.1",
"strand": true,
"transcript": "ENST00000395330.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 439,
"cdna_start": null,
"cds_end": null,
"cds_length": 395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414474.5",
"gene_hgnc_id": 9546,
"gene_symbol": "PSMB9",
"hgvs_c": "c.-10+737A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394363.1",
"strand": true,
"transcript": "ENST00000414474.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1015,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000412095.1",
"gene_hgnc_id": 39758,
"gene_symbol": "PSMB8-AS1",
"hgvs_c": "n.927A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000412095.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000413039.6",
"gene_hgnc_id": 39758,
"gene_symbol": "PSMB8-AS1",
"hgvs_c": "n.395A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000413039.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000415067.2",
"gene_hgnc_id": 39758,
"gene_symbol": "PSMB8-AS1",
"hgvs_c": "n.452A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000415067.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000429600.2",
"gene_hgnc_id": 39758,
"gene_symbol": "PSMB8-AS1",
"hgvs_c": "n.613A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000429600.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1272,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000453426.2",
"gene_hgnc_id": 39758,
"gene_symbol": "PSMB8-AS1",
"hgvs_c": "n.379A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000453426.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000458296.2",
"gene_hgnc_id": 39758,
"gene_symbol": "PSMB8-AS1",
"hgvs_c": "n.746A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000458296.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
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