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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: 3-44557378-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=44557378&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZKSCAN7",
"hgnc_id": 12955,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_018651.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ZKSCAN7-AS1",
"hgnc_id": 53964,
"hgvs_c": "n.458G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000457331.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2506,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "3",
"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": 0.8071551322937012,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": 738,
"cds_end": null,
"cds_length": 2265,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001288590.2",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000426540.6",
"protein_coding": true,
"protein_id": "NP_001275519.1",
"strand": true,
"transcript": "NM_001288590.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": 738,
"cds_end": null,
"cds_length": 2265,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000426540.6",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001288590.2",
"protein_coding": true,
"protein_id": "ENSP00000395524.1",
"strand": true,
"transcript": "ENST00000426540.6",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 760,
"cds_end": null,
"cds_length": 2265,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000273320.7",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000273320.3",
"strand": true,
"transcript": "ENST00000273320.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 276,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 765,
"cds_end": null,
"cds_length": 831,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000341840.7",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345404.3",
"strand": true,
"transcript": "ENST00000341840.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 276,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 738,
"cds_end": null,
"cds_length": 831,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000431636.5",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416681.1",
"strand": true,
"transcript": "ENST00000431636.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 373,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": null,
"cds_end": null,
"cds_length": 1122,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447279.2",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.-28+1897C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405034.1",
"strand": true,
"transcript": "ENST00000447279.2",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2265,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_018651.4",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061121.2",
"strand": true,
"transcript": "NM_018651.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2262,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896017.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566076.1",
"strand": true,
"transcript": "ENST00000896017.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": 727,
"cds_end": null,
"cds_length": 2262,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896018.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566077.1",
"strand": true,
"transcript": "ENST00000896018.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3273,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2046,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000946797.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616856.1",
"strand": true,
"transcript": "ENST00000946797.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 681,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 730,
"cds_end": null,
"cds_length": 2046,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000946798.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616857.1",
"strand": true,
"transcript": "ENST00000946798.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 680,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 759,
"cds_end": null,
"cds_length": 2043,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000946799.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616858.1",
"strand": true,
"transcript": "ENST00000946799.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 718,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896019.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566078.1",
"strand": true,
"transcript": "ENST00000896019.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 667,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": 713,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000946801.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616860.1",
"strand": true,
"transcript": "ENST00000946801.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 666,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2001,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000932839.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602898.1",
"strand": true,
"transcript": "ENST00000932839.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 666,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 714,
"cds_end": null,
"cds_length": 2001,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000946800.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616859.1",
"strand": true,
"transcript": "ENST00000946800.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 276,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 738,
"cds_end": null,
"cds_length": 831,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001288591.2",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275520.1",
"strand": true,
"transcript": "NM_001288591.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 276,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 775,
"cds_end": null,
"cds_length": 831,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_025169.3",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079445.1",
"strand": true,
"transcript": "NM_025169.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
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"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 738,
"cds_end": null,
"cds_length": 2262,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047448578.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304534.1",
"strand": true,
"transcript": "XM_047448578.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2262,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047448579.1",
"gene_hgnc_id": 12955,
"gene_symbol": "ZKSCAN7",
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Arg111Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304535.1",
"strand": true,
"transcript": "XM_047448579.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 292,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 738,
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