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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: 18-44951954-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=44951954&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SETBP1",
"hgnc_id": 15573,
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"inheritance_mode": "AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_015559.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9998,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"chr": "18",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "8 conditions",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8645522594451904,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9909,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015559.3",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649279.2",
"protein_coding": true,
"protein_id": "NP_056374.2",
"strand": true,
"transcript": "NM_015559.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9909,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000649279.2",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015559.3",
"protein_coding": true,
"protein_id": "ENSP00000497406.1",
"strand": true,
"transcript": "ENST00000649279.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10098,
"cdna_start": 3109,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001379141.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366070.1",
"strand": true,
"transcript": "NM_001379141.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9942,
"cdna_start": 2953,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001379142.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366071.1",
"strand": true,
"transcript": "NM_001379142.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6280,
"cdna_start": 2993,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000677068.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504398.1",
"strand": true,
"transcript": "ENST00000677068.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9954,
"cdna_start": 2965,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000677077.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503656.1",
"strand": true,
"transcript": "ENST00000677077.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10021,
"cdna_start": 3032,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000677130.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503094.1",
"strand": true,
"transcript": "ENST00000677130.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9849,
"cdna_start": 2860,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000678152.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502995.1",
"strand": true,
"transcript": "ENST00000678152.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1596,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6239,
"cdna_start": 2924,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869552.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539611.1",
"strand": true,
"transcript": "ENST00000869552.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9738,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 4620,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410862.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397791.1",
"strand": true,
"transcript": "NM_001410862.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9738,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 4620,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000677699.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503964.1",
"strand": true,
"transcript": "ENST00000677699.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10176,
"cdna_start": 3187,
"cds_end": null,
"cds_length": 4869,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024451149.2",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2692G>A",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306917.1",
"strand": true,
"transcript": "XM_024451149.2",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9987,
"cdna_start": 2998,
"cds_end": null,
"cds_length": 4869,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024451150.2",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2692G>A",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306918.1",
"strand": true,
"transcript": "XM_024451150.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "G",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9995,
"cdna_start": 3006,
"cds_end": null,
"cds_length": 4869,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024451151.2",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2692G>A",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306919.1",
"strand": true,
"transcript": "XM_024451151.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1622,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10060,
"cdna_start": 3071,
"cds_end": null,
"cds_length": 4869,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024451152.2",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2692G>A",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306920.1",
"strand": true,
"transcript": "XM_024451152.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1622,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10020,
"cdna_start": 3031,
"cds_end": null,
"cds_length": 4869,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047437475.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2692G>A",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293431.1",
"strand": true,
"transcript": "XM_047437475.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1596,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10093,
"cdna_start": 3104,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024451154.2",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306922.1",
"strand": true,
"transcript": "XM_024451154.2",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2928,
"cds_end": null,
"cds_length": 4791,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047437476.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293432.1",
"strand": true,
"transcript": "XM_047437476.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10005,
"cdna_start": 3187,
"cds_end": null,
"cds_length": 4698,
"cds_start": 2692,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024451156.2",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2692G>A",
"hgvs_p": "p.Gly898Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306924.1",
"strand": true,
"transcript": "XM_024451156.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1539,
"aa_ref": "G",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9927,
"cdna_start": 3109,
"cds_end": null,
"cds_length": 4620,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047437477.1",
"gene_hgnc_id": 15573,
"gene_symbol": "SETBP1",
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Gly872Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293433.1",
"strand": true,
"transcript": "XM_047437477.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "G",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 56789,
"cdna_start": 49800,
"cds_end": null,
"cds_length": 4314,
"cds_start": 2137,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
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