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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: 2-60546213-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60546213&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 60546213,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000642384.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Cys48Phe",
"transcript": "NM_022893.4",
"protein_id": "NP_075044.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 835,
"cds_start": 143,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": "ENST00000642384.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Cys48Phe",
"transcript": "ENST00000642384.2",
"protein_id": "ENSP00000496168.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 835,
"cds_start": 143,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": "NM_022893.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Cys48Phe",
"transcript": "ENST00000335712.11",
"protein_id": "ENSP00000338774.7",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 801,
"cds_start": 143,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Cys48Phe",
"transcript": "ENST00000358510.6",
"protein_id": "ENSP00000351307.5",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 793,
"cds_start": 143,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Cys48Phe",
"transcript": "ENST00000356842.9",
"protein_id": "ENSP00000349300.4",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 773,
"cds_start": 143,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Cys48Phe",
"transcript": "ENST00000359629.10",
"protein_id": "ENSP00000352648.5",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 243,
"cds_start": 143,
"cds_end": null,
"cds_length": 732,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.143G>T",
"hgvs_p": "p.Cys48Phe",
"transcript": "ENST00000409351.5",
"protein_id": "ENSP00000487844.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 142,
"cds_start": 143,
"cds_end": null,
"cds_length": 429,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405713.1",
"protein_id": "NP_001392642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": -4,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405714.1",
"protein_id": "NP_001392643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": -4,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405715.1",
"protein_id": "NP_001392644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": -4,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405716.1",
"protein_id": "NP_001392645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
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"cds_length": 2328,
"cdna_start": null,
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"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405717.1",
"protein_id": "NP_001392646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
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"cds_length": 2250,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405718.1",
"protein_id": "NP_001392647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
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"cds_length": 2250,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-283G>T",
"hgvs_p": null,
"transcript": "NM_001405720.1",
"protein_id": "NP_001392649.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-283G>T",
"hgvs_p": null,
"transcript": "NM_001405721.1",
"protein_id": "NP_001392650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405722.1",
"protein_id": "NP_001392651.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405723.1",
"protein_id": "NP_001392652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-14G>T",
"hgvs_p": null,
"transcript": "NM_001405724.1",
"protein_id": "NP_001392653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-533G>T",
"hgvs_p": null,
"transcript": "NM_001405725.1",
"protein_id": "NP_001392654.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-533G>T",
"hgvs_p": null,
"transcript": "NM_001405726.1",
"protein_id": "NP_001392655.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-390G>T",
"hgvs_p": null,
"transcript": "NM_001405727.1",
"protein_id": "NP_001392656.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL11A",
"gene_hgnc_id": 13221,
"hgvs_c": "c.-390G>T",
"hgvs_p": null,
"transcript": "NM_001405728.1",
"protein_id": "NP_001392657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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}
],
"gene_symbol": "BCL11A",
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"dbsnp": "rs886037865",
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"computational_score_selected": 0.9880847930908203,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.947,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9966,
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"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000642384.2",
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"effects": [
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}
],
"clinvar_disease": "Dias-Logan syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Dias-Logan syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}