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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: 20-45420577-A-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45420577&ref=A&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45420577,
"ref": "A",
"alt": "AC",
"effect": "frameshift_variant",
"transcript": "ENST00000279036.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs",
"transcript": "NM_015937.6",
"protein_id": "NP_057021.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 578,
"cds_start": 919,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "ENST00000279036.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs",
"transcript": "ENST00000279036.12",
"protein_id": "ENSP00000279036.6",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 578,
"cds_start": 919,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": "NM_015937.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs",
"transcript": "ENST00000372689.9",
"protein_id": "ENSP00000361774.4",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 511,
"cds_start": 919,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.777dupC",
"hgvs_p": "p.Val260fs",
"transcript": "ENST00000639382.1",
"protein_id": "ENSP00000491534.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 392,
"cds_start": 778,
"cds_end": null,
"cds_length": 1180,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.639dupC",
"hgvs_p": "p.Val214fs",
"transcript": "ENST00000638353.1",
"protein_id": "ENSP00000491538.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 317,
"cds_start": 640,
"cds_end": null,
"cds_length": 955,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.807dupC",
"hgvs_p": "p.Val270fs",
"transcript": "ENST00000639235.1",
"protein_id": "ENSP00000492498.1",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 315,
"cds_start": 808,
"cds_end": null,
"cds_length": 949,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.888dupC",
"hgvs_p": "p.Val297fs",
"transcript": "ENST00000638489.1",
"protein_id": "ENSP00000491566.1",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 313,
"cds_start": 889,
"cds_end": null,
"cds_length": 942,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs",
"transcript": "ENST00000639292.2",
"protein_id": "ENSP00000491678.2",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 605,
"cds_start": 919,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.924dupC",
"hgvs_p": "p.Val309fs",
"transcript": "ENST00000640324.1",
"protein_id": "ENSP00000491074.1",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 580,
"cds_start": 925,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs",
"transcript": "ENST00000638691.2",
"protein_id": "ENSP00000492094.2",
"transcript_support_level": 3,
"aa_start": 307,
"aa_end": null,
"aa_length": 550,
"cds_start": 919,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.750dupC",
"hgvs_p": "p.Val251fs",
"transcript": "NM_001184728.3",
"protein_id": "NP_001171657.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 522,
"cds_start": 751,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.750dupC",
"hgvs_p": "p.Val251fs",
"transcript": "ENST00000543458.7",
"protein_id": "ENSP00000441577.1",
"transcript_support_level": 2,
"aa_start": 251,
"aa_end": null,
"aa_length": 522,
"cds_start": 751,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs",
"transcript": "NM_001184729.3",
"protein_id": "NP_001171658.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 511,
"cds_start": 919,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs",
"transcript": "ENST00000638594.1",
"protein_id": "ENSP00000491697.1",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 505,
"cds_start": 919,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs",
"transcript": "ENST00000639499.1",
"protein_id": "ENSP00000491170.1",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 495,
"cds_start": 919,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.612dupC",
"hgvs_p": "p.Val205fs",
"transcript": "NM_001184730.3",
"protein_id": "NP_001171659.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 476,
"cds_start": 613,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.612dupC",
"hgvs_p": "p.Val205fs",
"transcript": "ENST00000279035.14",
"protein_id": "ENSP00000279035.8",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 476,
"cds_start": 613,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.507dupC",
"hgvs_p": "p.Val170fs",
"transcript": "ENST00000640210.1",
"protein_id": "ENSP00000491164.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 441,
"cds_start": 508,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.336dupC",
"hgvs_p": "p.Val113fs",
"transcript": "ENST00000545755.3",
"protein_id": "ENSP00000443963.3",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 384,
"cds_start": 337,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.813dupC",
"hgvs_p": "p.Val272fs",
"transcript": "ENST00000638478.1",
"protein_id": "ENSP00000491233.1",
"transcript_support_level": 3,
"aa_start": 272,
"aa_end": null,
"aa_length": 353,
"cds_start": 814,
"cds_end": null,
"cds_length": 1064,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "c.612dupC",
"hgvs_p": "p.Val205fs",
"transcript": "ENST00000432270.2",
"protein_id": "ENSP00000408354.2",
"transcript_support_level": 3,
"aa_start": 205,
"aa_end": null,
"aa_length": 274,
"cds_start": 613,
"cds_end": null,
"cds_length": 827,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.918dupC",
"hgvs_p": null,
"transcript": "ENST00000424705.3",
"protein_id": "ENSP00000491856.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGT",
"gene_hgnc_id": 14938,
"hgvs_c": "n.*449dupC",
"hgvs_p": null,
"transcript": "ENST00000455050.2",
"protein_id": "ENSP00000407574.2",
"transcript_support_level": 2,
"aa_start": null,
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"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.066,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000279036.12",
"gene_symbol": "PIGT",
"hgnc_id": 14938,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.918dupC",
"hgvs_p": "p.Val307fs"
}
],
"clinvar_disease": "Inborn genetic diseases,Multiple congenital anomalies-hypotonia-seizures syndrome 3,PIGT-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 O:1",
"phenotype_combined": "Multiple congenital anomalies-hypotonia-seizures syndrome 3|not provided|PIGT-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}