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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: 5-82253397-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=82253397&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATG10",
"hgnc_id": 20315,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_031482.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 749559,
"alphamissense_prediction": null,
"alphamissense_score": 0.0827,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 8.619970230938634e-7,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 931,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_031482.5",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000282185.8",
"protein_coding": true,
"protein_id": "NP_113670.1",
"strand": true,
"transcript": "NM_031482.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 931,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000282185.8",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031482.5",
"protein_coding": true,
"protein_id": "ENSP00000282185.3",
"strand": true,
"transcript": "ENST00000282185.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000458350.7",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404938.3",
"strand": true,
"transcript": "ENST00000458350.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001131028.2",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124500.1",
"strand": true,
"transcript": "NM_001131028.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866604.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536663.1",
"strand": true,
"transcript": "ENST00000866604.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 678,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866605.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536664.1",
"strand": true,
"transcript": "ENST00000866605.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000866609.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536668.1",
"strand": true,
"transcript": "ENST00000866609.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866610.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536669.1",
"strand": true,
"transcript": "ENST00000866610.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 836,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000866611.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536670.1",
"strand": true,
"transcript": "ENST00000866611.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 689,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866613.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536672.1",
"strand": true,
"transcript": "ENST00000866613.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919272.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589331.1",
"strand": true,
"transcript": "ENST00000919272.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 932,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919274.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589333.1",
"strand": true,
"transcript": "ENST00000919274.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 220,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919276.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589335.1",
"strand": true,
"transcript": "ENST00000919276.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919277.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589336.1",
"strand": true,
"transcript": "ENST00000919277.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1298,
"cds_end": null,
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"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969578.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639637.1",
"strand": true,
"transcript": "ENST00000969578.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 220,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 663,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969579.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639638.1",
"strand": true,
"transcript": "ENST00000969579.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 202,
"aa_ref": "T",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 860,
"cds_end": null,
"cds_length": 609,
"cds_start": 581,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969580.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Thr194Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639639.1",
"strand": true,
"transcript": "ENST00000969580.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 184,
"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 956,
"cds_end": null,
"cds_length": 555,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866607.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Thr176Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536666.1",
"strand": true,
"transcript": "ENST00000866607.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 823,
"cds_end": null,
"cds_length": 555,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000866608.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Thr176Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536667.1",
"strand": true,
"transcript": "ENST00000866608.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 184,
"aa_ref": "T",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 720,
"cds_end": null,
"cds_length": 555,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000866612.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Thr176Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536671.1",
"strand": true,
"transcript": "ENST00000866612.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 184,
"aa_ref": "T",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3242,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 555,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919273.1",
"gene_hgnc_id": 20315,
"gene_symbol": "ATG10",
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Thr176Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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