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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: 19-43997352-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43997352&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": "ZNF155",
"hgnc_id": 12940,
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001260488.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ZNF230-DT",
"hgnc_id": 55316,
"hgvs_c": "n.2094G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000586860.1",
"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": 0.1109,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "19",
"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": 0.11571371555328369,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198089.3",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000270014.7",
"protein_coding": true,
"protein_id": "NP_932355.3",
"strand": true,
"transcript": "NM_198089.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000270014.7",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198089.3",
"protein_coding": true,
"protein_id": "ENSP00000270014.1",
"strand": true,
"transcript": "ENST00000270014.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000590615.5",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465691.1",
"strand": true,
"transcript": "ENST00000590615.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001260488.2",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001247417.2",
"strand": true,
"transcript": "NM_001260488.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000407951.6",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385163.2",
"strand": true,
"transcript": "ENST00000407951.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 1741,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001260486.2",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001247415.2",
"strand": true,
"transcript": "NM_001260486.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001260487.2",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001247416.2",
"strand": true,
"transcript": "NM_001260487.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003445.4",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003436.4",
"strand": true,
"transcript": "NM_003445.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000611002.4",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481677.1",
"strand": true,
"transcript": "ENST00000611002.4",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851203.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521262.1",
"strand": true,
"transcript": "ENST00000851203.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2672,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851204.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521263.1",
"strand": true,
"transcript": "ENST00000851204.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 2945,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851205.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521264.1",
"strand": true,
"transcript": "ENST00000851205.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932768.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602827.1",
"strand": true,
"transcript": "ENST00000932768.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1495,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968381.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638440.1",
"strand": true,
"transcript": "ENST00000968381.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1492,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000968382.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1492C>T",
"hgvs_p": "p.Arg498Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638441.1",
"strand": true,
"transcript": "ENST00000968382.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011527278.4",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525580.1",
"strand": true,
"transcript": "XM_011527278.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 549,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4243,
"cdna_start": 3269,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024451694.2",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307462.1",
"strand": true,
"transcript": "XM_024451694.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 549,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047439370.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295326.1",
"strand": true,
"transcript": "XM_047439370.1",
"transcript_support_level": null
},
{
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"aa_length": 549,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": 3192,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439372.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295328.1",
"strand": true,
"transcript": "XM_047439372.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5805,
"cdna_start": 4831,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439373.1",
"gene_hgnc_id": 12940,
"gene_symbol": "ZNF155",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295329.1",
"strand": true,
"transcript": "XM_047439373.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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}