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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: 19-56782026-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56782026&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZIM2",
"hgnc_id": 12875,
"hgvs_c": "c.666T>A",
"hgvs_p": "p.Ser222Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001369773.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286125",
"hgnc_id": null,
"hgvs_c": "n.44-7902A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000595954.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZIM2-AS1",
"hgnc_id": 51304,
"hgvs_c": "n.94-7902A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_110744.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2732,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05989113450050354,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 558,
"aa_ref": "S",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1677,
"cds_start": 666,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001387356.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.666T>A",
"hgvs_p": "p.Ser222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000629319.3",
"protein_coding": true,
"protein_id": "NP_001374285.1",
"strand": false,
"transcript": "NM_001387356.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 558,
"aa_ref": "S",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1677,
"cds_start": 666,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000629319.3",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.666T>A",
"hgvs_p": "p.Ser222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387356.1",
"protein_coding": true,
"protein_id": "ENSP00000486502.2",
"strand": false,
"transcript": "ENST00000629319.3",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000593711.6",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472306.1",
"strand": false,
"transcript": "ENST00000593711.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000601070.5",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470326.1",
"strand": false,
"transcript": "ENST00000601070.5",
"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": 2054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000595671.5",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "n.*156T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000469185.1",
"strand": false,
"transcript": "ENST00000595671.5",
"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": 2037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000597281.5",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "n.*156T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471643.1",
"strand": false,
"transcript": "ENST00000597281.5",
"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": 2054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000595671.5",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "n.*156T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000469185.1",
"strand": false,
"transcript": "ENST00000595671.5",
"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": 2037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000597281.5",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "n.*156T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471643.1",
"strand": false,
"transcript": "ENST00000597281.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000595954.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286125",
"hgvs_c": "n.44-7902A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000595954.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 558,
"aa_ref": "S",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1677,
"cds_start": 666,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369773.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.666T>A",
"hgvs_p": "p.Ser222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356702.1",
"strand": false,
"transcript": "NM_001369773.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 558,
"aa_ref": "S",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1677,
"cds_start": 666,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369774.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.666T>A",
"hgvs_p": "p.Ser222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356703.1",
"strand": false,
"transcript": "NM_001369774.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 558,
"aa_ref": "S",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1677,
"cds_start": 666,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000689654.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.666T>A",
"hgvs_p": "p.Ser222Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510784.1",
"strand": false,
"transcript": "ENST00000689654.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001146326.2",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139798.1",
"strand": false,
"transcript": "NM_001146326.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2265,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001146327.2",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139799.1",
"strand": false,
"transcript": "NM_001146327.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369770.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356699.1",
"strand": false,
"transcript": "NM_001369770.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369771.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356700.1",
"strand": false,
"transcript": "NM_001369771.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001369772.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356701.1",
"strand": false,
"transcript": "NM_001369772.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001387357.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374286.1",
"strand": false,
"transcript": "NM_001387357.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001387358.1",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374287.1",
"strand": false,
"transcript": "NM_001387358.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 527,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1584,
"cds_start": 573,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015363.5",
"gene_hgnc_id": 12875,
"gene_symbol": "ZIM2",
"hgvs_c": "c.573T>A",
"hgvs_p": "p.Ser191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056178.3",
"strand": false,
"transcript": "NM_015363.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
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