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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: 1-16251211-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16251211&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBXO42",
"hgnc_id": 29249,
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_018994.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.2283,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4636020064353943,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6227,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_018994.3",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375592.8",
"protein_coding": true,
"protein_id": "NP_061867.1",
"strand": false,
"transcript": "NM_018994.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6227,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000375592.8",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018994.3",
"protein_coding": true,
"protein_id": "ENSP00000364742.3",
"strand": false,
"transcript": "ENST00000375592.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868586.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538645.1",
"strand": false,
"transcript": "ENST00000868586.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868587.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538646.1",
"strand": false,
"transcript": "ENST00000868587.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2855,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868588.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538647.1",
"strand": false,
"transcript": "ENST00000868588.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 1986,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868589.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538648.1",
"strand": false,
"transcript": "ENST00000868589.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868590.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538649.1",
"strand": false,
"transcript": "ENST00000868590.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000868593.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538652.1",
"strand": false,
"transcript": "ENST00000868593.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868594.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538653.1",
"strand": false,
"transcript": "ENST00000868594.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000957239.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627298.1",
"strand": false,
"transcript": "ENST00000957239.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957241.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627300.1",
"strand": false,
"transcript": "ENST00000957241.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 717,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957242.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627301.1",
"strand": false,
"transcript": "ENST00000957242.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 1895,
"cds_end": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957243.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627302.1",
"strand": false,
"transcript": "ENST00000957243.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 717,
"aa_ref": "H",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1613,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957244.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1613A>C",
"hgvs_p": "p.His538Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627303.1",
"strand": false,
"transcript": "ENST00000957244.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000957240.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1556A>C",
"hgvs_p": "p.His519Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627299.1",
"strand": false,
"transcript": "ENST00000957240.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 678,
"aa_ref": "H",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1496,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868591.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.His499Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538650.1",
"strand": false,
"transcript": "ENST00000868591.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1496,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868592.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.His499Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000538651.1",
"strand": false,
"transcript": "ENST00000868592.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940178.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.His499Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610237.1",
"strand": false,
"transcript": "ENST00000940178.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"cdna_start": 1832,
"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000940180.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.His499Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610239.1",
"strand": false,
"transcript": "ENST00000940180.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
"aa_start": 499,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1496,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940181.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1496A>C",
"hgvs_p": "p.His499Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610240.1",
"strand": false,
"transcript": "ENST00000940181.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 659,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1439,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940179.1",
"gene_hgnc_id": 29249,
"gene_symbol": "FBXO42",
"hgvs_c": "c.1439A>C",
"hgvs_p": "p.His480Pro",
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