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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: 12-2858783-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2858783&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2858783,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001413925.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2147G>A",
"hgvs_p": "p.Arg716His",
"transcript": "NM_021953.4",
"protein_id": "NP_068772.2",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 763,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359843.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021953.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2147G>A",
"hgvs_p": "p.Arg716His",
"transcript": "ENST00000359843.8",
"protein_id": "ENSP00000352901.4",
"transcript_support_level": 1,
"aa_start": 716,
"aa_end": null,
"aa_length": 763,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021953.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359843.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754His",
"transcript": "ENST00000342628.6",
"protein_id": "ENSP00000342307.2",
"transcript_support_level": 1,
"aa_start": 754,
"aa_end": null,
"aa_length": 801,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342628.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2102G>A",
"hgvs_p": "p.Arg701His",
"transcript": "ENST00000361953.7",
"protein_id": "ENSP00000354492.3",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 748,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361953.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2102G>A",
"hgvs_p": "p.Arg701His",
"transcript": "ENST00000627656.2",
"protein_id": "ENSP00000486536.1",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 748,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627656.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "n.1416G>A",
"hgvs_p": null,
"transcript": "ENST00000536066.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000536066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2",
"gene_hgnc_id": 30879,
"hgvs_c": "n.1044+452C>T",
"hgvs_p": null,
"transcript": "ENST00000545509.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000545509.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2264G>A",
"hgvs_p": "p.Arg755His",
"transcript": "NM_001413925.1",
"protein_id": "NP_001400854.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 802,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413925.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2264G>A",
"hgvs_p": "p.Arg755His",
"transcript": "ENST00000917196.1",
"protein_id": "ENSP00000587255.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 802,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917196.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754His",
"transcript": "NM_202002.3",
"protein_id": "NP_973731.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 801,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_202002.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753His",
"transcript": "NM_001413926.1",
"protein_id": "NP_001400855.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 800,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413926.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2258G>A",
"hgvs_p": "p.Arg753His",
"transcript": "ENST00000917185.1",
"protein_id": "ENSP00000587244.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 800,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917185.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2252G>A",
"hgvs_p": "p.Arg751His",
"transcript": "ENST00000917191.1",
"protein_id": "ENSP00000587250.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 798,
"cds_start": 2252,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917191.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2216G>A",
"hgvs_p": "p.Arg739His",
"transcript": "NM_001413927.1",
"protein_id": "NP_001400856.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 786,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413927.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2216G>A",
"hgvs_p": "p.Arg739His",
"transcript": "ENST00000917186.1",
"protein_id": "ENSP00000587245.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 786,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917186.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738His",
"transcript": "NM_001413928.1",
"protein_id": "NP_001400857.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 785,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413928.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738His",
"transcript": "ENST00000917184.1",
"protein_id": "ENSP00000587243.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 785,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917184.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2213G>A",
"hgvs_p": "p.Arg738His",
"transcript": "ENST00000917198.1",
"protein_id": "ENSP00000587257.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 785,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917198.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Arg717His",
"transcript": "NM_001413929.1",
"protein_id": "NP_001400858.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 764,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413929.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2147G>A",
"hgvs_p": "p.Arg716His",
"transcript": "NM_001413930.1",
"protein_id": "NP_001400859.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 763,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413930.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2144G>A",
"hgvs_p": "p.Arg715His",
"transcript": "NM_001413931.1",
"protein_id": "NP_001400860.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 762,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413931.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXM1",
"gene_hgnc_id": 3818,
"hgvs_c": "c.2144G>A",
"hgvs_p": "p.Arg715His",
"transcript": "ENST00000865631.1",
"protein_id": "ENSP00000535690.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 762,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"bayesdelnoaf_score": -0.12,
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{
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"effects": [
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{
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],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}