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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: 7-102813359-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=102813359&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 102813359,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394494.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2461G>A",
"hgvs_p": "p.Glu821Lys",
"transcript": "NM_001394494.2",
"protein_id": "NP_001381423.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 825,
"cds_start": 2461,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394494.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2461G>A",
"hgvs_p": "p.Glu821Lys",
"transcript": "ENST00000440067.4",
"protein_id": "ENSP00000390126.2",
"transcript_support_level": 3,
"aa_start": 821,
"aa_end": null,
"aa_length": 825,
"cds_start": 2461,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394494.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440067.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*2106G>A",
"hgvs_p": null,
"transcript": "ENST00000379305.7",
"protein_id": "ENSP00000368607.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000379305.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*329G>A",
"hgvs_p": null,
"transcript": "ENST00000448002.6",
"protein_id": "ENSP00000405434.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000448002.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*2055G>A",
"hgvs_p": null,
"transcript": "ENST00000455112.7",
"protein_id": "ENSP00000391550.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000455112.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*1344G>A",
"hgvs_p": null,
"transcript": "ENST00000456695.6",
"protein_id": "ENSP00000409716.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000456695.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*2106G>A",
"hgvs_p": null,
"transcript": "ENST00000379305.7",
"protein_id": "ENSP00000368607.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000379305.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*329G>A",
"hgvs_p": null,
"transcript": "ENST00000448002.6",
"protein_id": "ENSP00000405434.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000448002.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*2055G>A",
"hgvs_p": null,
"transcript": "ENST00000455112.7",
"protein_id": "ENSP00000391550.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000455112.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*1344G>A",
"hgvs_p": null,
"transcript": "ENST00000456695.6",
"protein_id": "ENSP00000409716.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000456695.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Glu776Lys",
"transcript": "ENST00000965689.1",
"protein_id": "ENSP00000635748.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 780,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965689.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Glu731Lys",
"transcript": "NM_145032.3",
"protein_id": "NP_659469.3",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 735,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145032.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Glu731Lys",
"transcript": "ENST00000313221.8",
"protein_id": "ENSP00000321927.4",
"transcript_support_level": 2,
"aa_start": 731,
"aa_end": null,
"aa_length": 735,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313221.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Glu703Lys",
"transcript": "NM_001287150.2",
"protein_id": "NP_001274079.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 707,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287150.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2056G>A",
"hgvs_p": "p.Glu686Lys",
"transcript": "NM_001111038.2",
"protein_id": "NP_001104508.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 690,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111038.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1738G>A",
"hgvs_p": "p.Glu580Lys",
"transcript": "ENST00000694871.1",
"protein_id": "ENSP00000511554.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 584,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694871.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Glu535Lys",
"transcript": "NM_001438453.1",
"protein_id": "NP_001425382.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 539,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438453.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Glu535Lys",
"transcript": "ENST00000694870.1",
"protein_id": "ENSP00000511553.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 539,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694870.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2452G>A",
"hgvs_p": "p.Glu818Lys",
"transcript": "XM_017011850.3",
"protein_id": "XP_016867339.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 822,
"cds_start": 2452,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011850.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2377G>A",
"hgvs_p": "p.Glu793Lys",
"transcript": "XM_011515928.4",
"protein_id": "XP_011514230.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 797,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515928.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2362G>A",
"hgvs_p": "p.Glu788Lys",
"transcript": "XM_005250207.5",
"protein_id": "XP_005250264.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 792,
"cds_start": 2362,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250207.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Glu776Lys",
"transcript": "XM_005250208.5",
"protein_id": "XP_005250265.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 780,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"pathogenic_score": 2,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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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
}