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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: 16-70561649-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70561649&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SF3B3",
"hgnc_id": 10770,
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_012426.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9692,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012426.5",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302516.10",
"protein_coding": true,
"protein_id": "NP_036558.3",
"strand": true,
"transcript": "NM_012426.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9692,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000302516.10",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012426.5",
"protein_coding": true,
"protein_id": "ENSP00000305790.5",
"strand": true,
"transcript": "ENST00000302516.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 3735,
"cds_start": 2234,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918237.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2234_2235delGCinsAT",
"hgvs_p": "p.Arg745His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588296.1",
"strand": true,
"transcript": "ENST00000918237.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "R",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4413,
"cdna_start": 2430,
"cds_end": null,
"cds_length": 3714,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909659.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2213_2214delGCinsAT",
"hgvs_p": "p.Arg738His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579718.1",
"strand": true,
"transcript": "ENST00000909659.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 3675,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918230.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588289.1",
"strand": true,
"transcript": "ENST00000918230.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4473,
"cdna_start": 2487,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909663.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579722.1",
"strand": true,
"transcript": "ENST00000909663.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4277,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918235.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588294.1",
"strand": true,
"transcript": "ENST00000918235.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4787,
"cdna_start": 2801,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918238.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588297.1",
"strand": true,
"transcript": "ENST00000918238.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4605,
"cdna_start": 2622,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950012.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620071.1",
"strand": true,
"transcript": "ENST00000950012.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1216,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 2370,
"cds_end": null,
"cds_length": 3651,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918229.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588288.1",
"strand": true,
"transcript": "ENST00000918229.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 3606,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909657.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2105_2106delGCinsAT",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579716.1",
"strand": true,
"transcript": "ENST00000909657.1",
"transcript_support_level": null
},
{
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"aa_length": 1201,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4271,
"cdna_start": 2288,
"cds_end": null,
"cds_length": 3606,
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"consequences": [
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],
"exon_count": 26,
"exon_rank": null,
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"feature": "ENST00000918234.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2105_2106delGCinsAT",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588293.1",
"strand": true,
"transcript": "ENST00000918234.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000950011.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2105_2106delGCinsAT",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620070.1",
"strand": true,
"transcript": "ENST00000950011.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 3558,
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"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000909660.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2057_2058delGCinsAT",
"hgvs_p": "p.Arg686His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579719.1",
"strand": true,
"transcript": "ENST00000909660.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2330,
"cds_end": null,
"cds_length": 3549,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000909664.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579723.1",
"strand": true,
"transcript": "ENST00000909664.1",
"transcript_support_level": null
},
{
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"aa_length": 1176,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 3531,
"cds_start": 2030,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909665.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2030_2031delGCinsAT",
"hgvs_p": "p.Arg677His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579724.1",
"strand": true,
"transcript": "ENST00000909665.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000909662.1",
"gene_hgnc_id": 10770,
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"hgvs_c": "c.2153_2154delGCinsAT",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579721.1",
"strand": true,
"transcript": "ENST00000909662.1",
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},
{
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"aa_ref": "R",
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"cds_end": null,
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"cds_start": 2009,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000918232.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.2009_2010delGCinsAT",
"hgvs_p": "p.Arg670His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000588291.1",
"strand": true,
"transcript": "ENST00000918232.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 1898,
"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000909658.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.1898_1899delGCinsAT",
"hgvs_p": "p.Arg633His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579717.1",
"strand": true,
"transcript": "ENST00000909658.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4060,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 3384,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909661.1",
"gene_hgnc_id": 10770,
"gene_symbol": "SF3B3",
"hgvs_c": "c.1883_1884delGCinsAT",
"hgvs_p": "p.Arg628His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579720.1",
"strand": true,
"transcript": "ENST00000909661.1",
"transcript_support_level": null
},
{
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"aa_length": 1117,
"aa_ref": "R",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4022,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 3354,
"cds_start": 1853,
"consequences": [
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],
"exon_count": 24,
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