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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: 12-3676907-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=3676907&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 3676907,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001144958.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "NM_001144958.2",
"protein_id": "NP_001138430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": "ENST00000440314.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144958.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000440314.7",
"protein_id": "ENSP00000409382.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": "NM_001144958.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440314.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000252322.1",
"protein_id": "ENSP00000252322.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252322.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000893446.1",
"protein_id": "ENSP00000563505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000893447.1",
"protein_id": "ENSP00000563506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000944632.1",
"protein_id": "ENSP00000614691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000944630.1",
"protein_id": "ENSP00000614689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000944631.1",
"protein_id": "ENSP00000614690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": null,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000893448.1",
"protein_id": "ENSP00000563507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893448.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "ENST00000944633.1",
"protein_id": "ENSP00000614692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": null,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "NM_032680.4",
"protein_id": "NP_116069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_032680.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "XM_006719021.4",
"protein_id": "XP_006719084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_006719021.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
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"transcript": "XM_011521034.4",
"protein_id": "XP_011519336.1",
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 4,
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"gene_symbol": "CRACR2A",
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"hgvs_c": "c.524+2008T>G",
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"transcript": "XM_011521036.4",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "XM_047429736.1",
"protein_id": "XP_047285692.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047429736.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 5,
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"gene_symbol": "CRACR2A",
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"hgvs_c": "c.71+2008T>G",
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"transcript": "XM_047429737.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.71+2008T>G",
"hgvs_p": null,
"transcript": "XM_047429738.1",
"protein_id": "XP_047285694.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047429738.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "XM_047429739.1",
"protein_id": "XP_047285695.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "CRACR2A",
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"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "XM_047429741.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "XM_047429742.1",
"protein_id": "XP_047285698.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429742.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRACR2A",
"gene_hgnc_id": 28657,
"hgvs_c": "c.524+2008T>G",
"hgvs_p": null,
"transcript": "XM_047429743.1",
"protein_id": "XP_047285699.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429743.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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],
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"gnomad_genomes_ac": 55994,
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"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.364,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001144958.2",
"gene_symbol": "CRACR2A",
"hgnc_id": 28657,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}