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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: 2-207578862-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=207578862&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 207578862,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000353267.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.839+1207C>G",
"hgvs_p": null,
"transcript": "NM_004379.5",
"protein_id": "NP_004370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10095,
"mane_select": "ENST00000353267.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.839+1207C>G",
"hgvs_p": null,
"transcript": "ENST00000353267.8",
"protein_id": "ENSP00000236995.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10095,
"mane_select": "NM_004379.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.881+1207C>G",
"hgvs_p": null,
"transcript": "ENST00000432329.6",
"protein_id": "ENSP00000387699.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.881+1207C>G",
"hgvs_p": null,
"transcript": "NM_001371426.1",
"protein_id": "NP_001358355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.881+1207C>G",
"hgvs_p": null,
"transcript": "NM_134442.5",
"protein_id": "NP_604391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": -4,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.839+1207C>G",
"hgvs_p": null,
"transcript": "NM_001371427.1",
"protein_id": "NP_001358356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.839+1207C>G",
"hgvs_p": null,
"transcript": "ENST00000430624.5",
"protein_id": "ENSP00000405539.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.719+1207C>G",
"hgvs_p": null,
"transcript": "NM_001371428.1",
"protein_id": "NP_001358357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.719+1207C>G",
"hgvs_p": null,
"transcript": "ENST00000448277.5",
"protein_id": "ENSP00000405711.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "n.*312+1207C>G",
"hgvs_p": null,
"transcript": "ENST00000418081.5",
"protein_id": "ENSP00000412016.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "n.209+1207C>G",
"hgvs_p": null,
"transcript": "ENST00000494983.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CREB1",
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"transcript": "NR_135473.2",
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},
{
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"strand": true,
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],
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"gene_symbol": "CREB1",
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"transcript": "NR_163946.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "CREB1",
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},
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],
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"transcript": "XM_047443435.1",
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},
{
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],
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"gene_symbol": "CREB1",
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"hgvs_c": "c.881+1207C>G",
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],
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},
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],
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"gene_symbol": "CREB1",
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"hgvs_c": "c.839+1207C>G",
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"transcript": "XM_047443437.1",
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},
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],
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"gene_symbol": "CREB1",
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"hgvs_c": "c.882-659C>G",
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],
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},
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],
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"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.840-659C>G",
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"transcript": "XM_017003399.3",
"protein_id": "XP_016858888.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CREB1",
"gene_hgnc_id": 2345,
"hgvs_c": "c.257+1207C>G",
"hgvs_p": null,
"transcript": "XM_047443444.1",
"protein_id": "XP_047299400.1",
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},
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "CREB1",
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"hgvs_c": "c.191+1207C>G",
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"transcript": "XM_017003401.3",
"protein_id": "XP_016858890.1",
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"aa_start": null,
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"aa_length": 111,
"cds_start": -4,
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"cds_length": 336,
"cdna_start": null,
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"cdna_length": 9289,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CREB1",
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"dbsnp": "rs55834243",
"frequency_reference_population": 0.0000131563365,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131563,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.687,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000353267.8",
"gene_symbol": "CREB1",
"hgnc_id": 2345,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.839+1207C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}