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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: 5-168244657-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=168244657&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TENM2",
"hgnc_id": 29943,
"hgvs_c": "c.5758C>T",
"hgvs_p": "p.Arg1920Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001395460.1",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TENM2-AS1",
"hgnc_id": 56066,
"hgvs_c": "n.198-12285G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000519795.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.499,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.894587516784668,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2774,
"aa_ref": "R",
"aa_start": 1920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10356,
"cdna_start": 6442,
"cds_end": null,
"cds_length": 8325,
"cds_start": 5758,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001395460.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5758C>T",
"hgvs_p": "p.Arg1920Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000518659.6",
"protein_coding": true,
"protein_id": "NP_001382389.1",
"strand": true,
"transcript": "NM_001395460.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2774,
"aa_ref": "R",
"aa_start": 1920,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10356,
"cdna_start": 6442,
"cds_end": null,
"cds_length": 8325,
"cds_start": 5758,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000518659.6",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5758C>T",
"hgvs_p": "p.Arg1920Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395460.1",
"protein_coding": true,
"protein_id": "ENSP00000429430.1",
"strand": true,
"transcript": "ENST00000518659.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2535,
"aa_ref": "R",
"aa_start": 1681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8034,
"cdna_start": 5092,
"cds_end": null,
"cds_length": 7608,
"cds_start": 5041,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000520394.5",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5041C>T",
"hgvs_p": "p.Arg1681Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427874.1",
"strand": true,
"transcript": "ENST00000520394.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2765,
"aa_ref": "R",
"aa_start": 1911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9834,
"cdna_start": 5920,
"cds_end": null,
"cds_length": 8298,
"cds_start": 5731,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001122679.2",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5731C>T",
"hgvs_p": "p.Arg1911Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116151.1",
"strand": true,
"transcript": "NM_001122679.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2653,
"aa_ref": "R",
"aa_start": 1799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9427,
"cdna_start": 5513,
"cds_end": null,
"cds_length": 7962,
"cds_start": 5395,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000519204.5",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5395C>T",
"hgvs_p": "p.Arg1799Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428964.1",
"strand": true,
"transcript": "ENST00000519204.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2615,
"aa_ref": "R",
"aa_start": 1761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9517,
"cdna_start": 5603,
"cds_end": null,
"cds_length": 7848,
"cds_start": 5281,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001368145.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5281C>T",
"hgvs_p": "p.Arg1761Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355074.1",
"strand": true,
"transcript": "NM_001368145.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2613,
"aa_ref": "R",
"aa_start": 1759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9511,
"cdna_start": 5597,
"cds_end": null,
"cds_length": 7842,
"cds_start": 5275,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001368146.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5275C>T",
"hgvs_p": "p.Arg1759Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355075.1",
"strand": true,
"transcript": "NM_001368146.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2613,
"aa_ref": "R",
"aa_start": 1759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9500,
"cdna_start": 5597,
"cds_end": null,
"cds_length": 7842,
"cds_start": 5275,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000695886.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5275C>T",
"hgvs_p": "p.Arg1759Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512239.1",
"strand": true,
"transcript": "ENST00000695886.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2577,
"aa_ref": "R",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10354,
"cdna_start": 6819,
"cds_end": null,
"cds_length": 7734,
"cds_start": 5167,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000695961.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5167C>T",
"hgvs_p": "p.Arg1723Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512289.1",
"strand": true,
"transcript": "ENST00000695961.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2535,
"aa_ref": "R",
"aa_start": 1681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9080,
"cdna_start": 5166,
"cds_end": null,
"cds_length": 7608,
"cds_start": 5041,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001080428.3",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5041C>T",
"hgvs_p": "p.Arg1681Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073897.2",
"strand": true,
"transcript": "NM_001080428.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2369,
"aa_ref": "R",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9271,
"cdna_start": 5359,
"cds_end": null,
"cds_length": 7110,
"cds_start": 4543,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000695962.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.4543C>T",
"hgvs_p": "p.Arg1515Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512290.1",
"strand": true,
"transcript": "ENST00000695962.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2767,
"aa_ref": "R",
"aa_start": 1913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10335,
"cdna_start": 6421,
"cds_end": null,
"cds_length": 8304,
"cds_start": 5737,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_017009661.2",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5737C>T",
"hgvs_p": "p.Arg1913Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865150.1",
"strand": true,
"transcript": "XM_017009661.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2765,
"aa_ref": "R",
"aa_start": 1911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10329,
"cdna_start": 6415,
"cds_end": null,
"cds_length": 8298,
"cds_start": 5731,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_005265950.3",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5731C>T",
"hgvs_p": "p.Arg1911Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005266007.1",
"strand": true,
"transcript": "XM_005265950.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2758,
"aa_ref": "R",
"aa_start": 1904,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10388,
"cdna_start": 6474,
"cds_end": null,
"cds_length": 8277,
"cds_start": 5710,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047417418.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5710C>T",
"hgvs_p": "p.Arg1904Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273374.1",
"strand": true,
"transcript": "XM_047417418.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2704,
"aa_ref": "R",
"aa_start": 1850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10146,
"cdna_start": 6232,
"cds_end": null,
"cds_length": 8115,
"cds_start": 5548,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_017009662.2",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5548C>T",
"hgvs_p": "p.Arg1850Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865151.1",
"strand": true,
"transcript": "XM_017009662.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2703,
"aa_ref": "R",
"aa_start": 1849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10143,
"cdna_start": 6229,
"cds_end": null,
"cds_length": 8112,
"cds_start": 5545,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_011534604.3",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5545C>T",
"hgvs_p": "p.Arg1849Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532906.1",
"strand": true,
"transcript": "XM_011534604.3",
"transcript_support_level": null
},
{
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"aa_length": 2699,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9453,
"cdna_start": 5539,
"cds_end": null,
"cds_length": 8100,
"cds_start": 5533,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017009663.3",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5533C>T",
"hgvs_p": "p.Arg1845Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865152.1",
"strand": true,
"transcript": "XM_017009663.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 2697,
"aa_ref": "R",
"aa_start": 1843,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10125,
"cdna_start": 6211,
"cds_end": null,
"cds_length": 8094,
"cds_start": 5527,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047417419.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5527C>T",
"hgvs_p": "p.Arg1843Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273375.1",
"strand": true,
"transcript": "XM_047417419.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 2696,
"aa_ref": "R",
"aa_start": 1842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10122,
"cdna_start": 6208,
"cds_end": null,
"cds_length": 8091,
"cds_start": 5524,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047417420.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5524C>T",
"hgvs_p": "p.Arg1842Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273376.1",
"strand": true,
"transcript": "XM_047417420.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 2692,
"aa_ref": "R",
"aa_start": 1838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9432,
"cdna_start": 5518,
"cds_end": null,
"cds_length": 8079,
"cds_start": 5512,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047417421.1",
"gene_hgnc_id": 29943,
"gene_symbol": "TENM2",
"hgvs_c": "c.5512C>T",
"hgvs_p": "p.Arg1838Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273377.1",
"strand": true,
"transcript": "XM_047417421.1",
"transcript_support_level": null
},
{
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