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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: 5-123346640-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=123346640&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 123346640,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153223.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "NM_001375405.1",
"protein_id": "NP_001362334.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 986,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306467.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375405.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "ENST00000306467.10",
"protein_id": "ENSP00000303058.6",
"transcript_support_level": 5,
"aa_start": 947,
"aa_end": null,
"aa_length": 986,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375405.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306467.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*2412G>A",
"hgvs_p": null,
"transcript": "ENST00000508138.5",
"protein_id": "ENSP00000422234.1",
"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": "ENST00000508138.5"
},
{
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*2244G>A",
"hgvs_p": null,
"transcript": "ENST00000513565.6",
"protein_id": "ENSP00000422089.2",
"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": "ENST00000513565.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*2412G>A",
"hgvs_p": null,
"transcript": "ENST00000508138.5",
"protein_id": "ENSP00000422234.1",
"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": "ENST00000508138.5"
},
{
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*2244G>A",
"hgvs_p": null,
"transcript": "ENST00000513565.6",
"protein_id": "ENSP00000422089.2",
"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": "ENST00000513565.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "NM_153223.4",
"protein_id": "NP_694955.2",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 986,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153223.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "ENST00000328236.10",
"protein_id": "ENSP00000327504.5",
"transcript_support_level": 5,
"aa_start": 947,
"aa_end": null,
"aa_length": 986,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328236.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2762G>A",
"hgvs_p": "p.Arg921His",
"transcript": "NM_001166226.2",
"protein_id": "NP_001159698.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 960,
"cds_start": 2762,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166226.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2762G>A",
"hgvs_p": "p.Arg921His",
"transcript": "ENST00000306481.11",
"protein_id": "ENSP00000307419.6",
"transcript_support_level": 5,
"aa_start": 921,
"aa_end": null,
"aa_length": 960,
"cds_start": 2762,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306481.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2762G>A",
"hgvs_p": "p.Arg921His",
"transcript": "ENST00000508442.7",
"protein_id": "ENSP00000421620.3",
"transcript_support_level": 2,
"aa_start": 921,
"aa_end": null,
"aa_length": 960,
"cds_start": 2762,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508442.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2741G>A",
"hgvs_p": "p.Arg914His",
"transcript": "ENST00000675442.1",
"protein_id": "ENSP00000502221.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 953,
"cds_start": 2741,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675442.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2705G>A",
"hgvs_p": "p.Arg902His",
"transcript": "NM_001375406.1",
"protein_id": "NP_001362335.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 941,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375406.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2705G>A",
"hgvs_p": "p.Arg902His",
"transcript": "ENST00000675330.1",
"protein_id": "ENSP00000502634.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 941,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675330.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756His",
"transcript": "NM_001375408.1",
"protein_id": "NP_001362337.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 795,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375408.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2267G>A",
"hgvs_p": "p.Arg756His",
"transcript": "NM_001375409.1",
"protein_id": "NP_001362338.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 795,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375409.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2762G>A",
"hgvs_p": "p.Arg921His",
"transcript": "XM_011543185.3",
"protein_id": "XP_011541487.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 960,
"cds_start": 2762,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543185.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.2627G>A",
"hgvs_p": "p.Arg876His",
"transcript": "XM_047416803.1",
"protein_id": "XP_047272759.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 915,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416803.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Arg458His",
"transcript": "XM_017009085.2",
"protein_id": "XP_016864574.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 497,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009085.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.*109G>A",
"hgvs_p": null,
"transcript": "NM_001375407.1",
"protein_id": "NP_001362336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "c.*109G>A",
"hgvs_p": null,
"transcript": "ENST00000674684.1",
"protein_id": "ENSP00000501697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": null,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674684.1"
},
{
"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": "CEP120",
"gene_hgnc_id": 26690,
"hgvs_c": "n.*2191G>A",
"hgvs_p": null,
"transcript": "ENST00000674620.1",
"protein_id": "ENSP00000501651.1",
"transcript_support_level": null,
"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,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.13,
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"phylop100way_prediction": "Uncertain_significance",
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{
"score": -20,
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"BA1"
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"verdict": "Benign",
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],
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Short-rib thoracic dysplasia 13 with or without polydactyly|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}