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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: 4-26659642-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=26659642&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBC1D19",
"hgnc_id": 25624,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018317.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": 0.0684,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10996565222740173,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 526,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1581,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_018317.4",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264866.9",
"protein_coding": true,
"protein_id": "NP_060787.2",
"strand": true,
"transcript": "NM_018317.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 526,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1581,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000264866.9",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018317.4",
"protein_coding": true,
"protein_id": "ENSP00000264866.4",
"strand": true,
"transcript": "ENST00000264866.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 461,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 331,
"cds_end": null,
"cds_length": 1386,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000511789.5",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425569.1",
"strand": true,
"transcript": "ENST00000511789.5",
"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": 1953,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000502873.5",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "n.636C>T",
"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": "ENST00000502873.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 586,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1761,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951249.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621308.1",
"strand": true,
"transcript": "ENST00000951249.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 523,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1572,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892672.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562731.1",
"strand": true,
"transcript": "ENST00000892672.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 480,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1443,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000892673.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562732.1",
"strand": true,
"transcript": "ENST00000892673.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 461,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1386,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001292054.2",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278983.1",
"strand": true,
"transcript": "NM_001292054.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 266,
"aa_ref": "L",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 912,
"cdna_start": 543,
"cds_end": null,
"cds_length": 802,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000512840.5",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Leu145Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427033.1",
"strand": true,
"transcript": "ENST00000512840.5",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 222,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 774,
"cdna_start": 436,
"cds_end": null,
"cds_length": 669,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000505206.5",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423097.1",
"strand": true,
"transcript": "ENST00000505206.5",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 551,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7096,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1656,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047415903.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271859.1",
"strand": true,
"transcript": "XM_047415903.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 528,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1587,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017008363.2",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863852.1",
"strand": true,
"transcript": "XM_017008363.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 495,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1488,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047415904.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Leu145Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271860.1",
"strand": true,
"transcript": "XM_047415904.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 484,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1455,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047415905.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271861.1",
"strand": true,
"transcript": "XM_047415905.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 367,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1104,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011513852.3",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512154.1",
"strand": true,
"transcript": "XM_011513852.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 358,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9029,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1077,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047415906.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271862.1",
"strand": true,
"transcript": "XM_047415906.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 334,
"aa_ref": "L",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1005,
"cds_start": 526,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017008364.2",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Leu176Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863853.1",
"strand": true,
"transcript": "XM_017008364.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 327,
"aa_ref": "L",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8941,
"cdna_start": 548,
"cds_end": null,
"cds_length": 984,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047415907.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Leu145Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271863.1",
"strand": true,
"transcript": "XM_047415907.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 689,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000504442.5",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "n.551C>T",
"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": "ENST00000504442.5",
"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": 713,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000515568.1",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "n.438C>T",
"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": "ENST00000515568.1",
"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": 2481,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_001741277.2",
"gene_hgnc_id": 25624,
"gene_symbol": "TBC1D19",
"hgvs_c": "n.636C>T",
"hgvs_p": null,
"intron_rank": null,
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