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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: 16-8768905-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8768905&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABAT",
"hgnc_id": 23,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001386615.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1",
"acmg_score": -10,
"allele_count_reference_population": 160,
"alphamissense_prediction": null,
"alphamissense_score": 0.133,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Gamma-aminobutyric acid transaminase deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.020848006010055542,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_020686.6",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268251.13",
"protein_coding": true,
"protein_id": "NP_065737.2",
"strand": true,
"transcript": "NM_020686.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000268251.13",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020686.6",
"protein_coding": true,
"protein_id": "ENSP00000268251.8",
"strand": true,
"transcript": "ENST00000268251.13",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1548,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000569156.5",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454963.1",
"strand": true,
"transcript": "ENST00000569156.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000566590.5",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "n.*488C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455198.1",
"strand": true,
"transcript": "ENST00000566590.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000566590.5",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "n.*488C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455198.1",
"strand": true,
"transcript": "ENST00000566590.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1599,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386615.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373544.1",
"strand": true,
"transcript": "NM_001386615.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4965,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1548,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001386616.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373545.1",
"strand": true,
"transcript": "NM_001386616.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1548,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000567812.5",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456330.1",
"strand": true,
"transcript": "ENST00000567812.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000663.5",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000654.2",
"strand": true,
"transcript": "NM_000663.5",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4906,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001127448.2",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120920.1",
"strand": true,
"transcript": "NM_001127448.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5463,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386600.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373529.1",
"strand": true,
"transcript": "NM_001386600.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386601.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373530.1",
"strand": true,
"transcript": "NM_001386601.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4880,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386602.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373531.1",
"strand": true,
"transcript": "NM_001386602.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5128,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386603.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373532.1",
"strand": true,
"transcript": "NM_001386603.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5173,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001386604.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373533.1",
"strand": true,
"transcript": "NM_001386604.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5586,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396600.6",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379845.2",
"strand": true,
"transcript": "ENST00000396600.6",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000425191.6",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411916.2",
"strand": true,
"transcript": "ENST00000425191.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000909342.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579401.1",
"strand": true,
"transcript": "ENST00000909342.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4895,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1503,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000909343.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579402.1",
"strand": true,
"transcript": "ENST00000909343.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 487,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4740,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1464,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001386605.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373534.1",
"strand": true,
"transcript": "NM_001386605.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 479,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4907,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1440,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001386606.1",
"gene_hgnc_id": 23,
"gene_symbol": "ABAT",
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229Trp",
"intron_rank": null,
"intron_rank_end": null,
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