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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: 6-32845602-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32845602&ref=C&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.2224G>C",
"hgvs_p": "p.Ala742Pro",
"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+1328C>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.922C>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": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.1436,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,MHC class I deficiency",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.45985934138298035,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 748,
"aa_ref": "A",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 2247,
"cds_start": 2224,
"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.2224G>C",
"hgvs_p": "p.Ala742Pro",
"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": "P",
"aa_end": null,
"aa_length": 748,
"aa_ref": "A",
"aa_start": 742,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 2247,
"cds_start": 2224,
"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.2224G>C",
"hgvs_p": "p.Ala742Pro",
"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": "S",
"aa_end": null,
"aa_length": 829,
"aa_ref": "R",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 2490,
"cds_start": 2319,
"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.2319G>C",
"hgvs_p": "p.Arg773Ser",
"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": "P",
"aa_end": null,
"aa_length": 752,
"aa_ref": "A",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 2288,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2236,
"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.2236G>C",
"hgvs_p": "p.Ala746Pro",
"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": "P",
"aa_end": null,
"aa_length": 742,
"aa_ref": "A",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2206,
"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.2206G>C",
"hgvs_p": "p.Ala736Pro",
"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": "P",
"aa_end": null,
"aa_length": 713,
"aa_ref": "A",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2719,
"cdna_start": 2323,
"cds_end": null,
"cds_length": 2142,
"cds_start": 2119,
"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.2119G>C",
"hgvs_p": "p.Ala707Pro",
"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": "P",
"aa_end": null,
"aa_length": 705,
"aa_ref": "A",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2118,
"cds_start": 2095,
"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.2095G>C",
"hgvs_p": "p.Ala699Pro",
"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": "P",
"aa_end": null,
"aa_length": 690,
"aa_ref": "A",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 2073,
"cds_start": 2050,
"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.2050G>C",
"hgvs_p": "p.Ala684Pro",
"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": "P",
"aa_end": null,
"aa_length": 685,
"aa_ref": "A",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 2058,
"cds_start": 2035,
"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.2035G>C",
"hgvs_p": "p.Ala679Pro",
"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": "P",
"aa_end": null,
"aa_length": 682,
"aa_ref": "A",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 2049,
"cds_start": 2026,
"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.2026G>C",
"hgvs_p": "p.Ala676Pro",
"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": "P",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1621,
"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.1621G>C",
"hgvs_p": "p.Ala541Pro",
"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": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "A",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 949,
"cds_end": null,
"cds_length": 792,
"cds_start": 769,
"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.769G>C",
"hgvs_p": "p.Ala257Pro",
"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+1328C>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+732C>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.922C>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.390C>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.447C>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.608C>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.374C>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.741C>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,
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