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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: 1-54356942-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=54356942&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 54356942,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000610401.6",
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "NM_145716.4",
"protein_id": "NP_663768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": "ENST00000610401.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "ENST00000610401.6",
"protein_id": "ENSP00000479674.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": "NM_145716.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "ENST00000357475.9",
"protein_id": "ENSP00000350067.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "n.549+44919G>C",
"hgvs_p": null,
"transcript": "ENST00000371320.8",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "NM_001394360.1",
"protein_id": "NP_001381289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "NM_018070.5",
"protein_id": "NP_060540.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "NM_001009955.4",
"protein_id": "NP_001009955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "ENST00000371319.8",
"protein_id": "ENSP00000360370.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.237+44919G>C",
"hgvs_p": null,
"transcript": "NM_001394361.1",
"protein_id": "NP_001381290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "NM_001394362.1",
"protein_id": "NP_001381291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
"gene_hgnc_id": 15674,
"hgvs_c": "c.276+44919G>C",
"hgvs_p": null,
"transcript": "NM_001394363.1",
"protein_id": "NP_001381292.1",
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"cds_start": -4,
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"cdna_start": null,
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},
{
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],
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"exon_count": 18,
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"gene_symbol": "SSBP3",
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"transcript": "NM_001394364.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 18,
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"gene_symbol": "SSBP3",
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"hgvs_c": "c.-55+44919G>C",
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"transcript": "ENST00000417664.7",
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"aa_start": null,
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},
{
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"strand": false,
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],
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"gene_symbol": "SSBP3",
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},
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],
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},
{
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "SSBP3",
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"hgvs_c": "c.-222-17789G>C",
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},
{
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],
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"gene_symbol": "SSBP3",
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"hgvs_c": "c.-55+44919G>C",
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"transcript": "ENST00000525990.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "SSBP3",
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"hgvs_c": "n.143+44919G>C",
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"transcript": "ENST00000533946.6",
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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": "SSBP3",
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"hgvs_c": "c.-55+44919G>C",
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"transcript": "XM_017000897.3",
"protein_id": "XP_016856386.1",
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},
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],
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},
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],
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "SSBP3",
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"hgvs_c": "c.-55+44919G>C",
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"transcript": "XM_047416697.1",
"protein_id": "XP_047272653.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SSBP3",
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"hgvs_c": "c.-55+1976G>C",
"hgvs_p": null,
"transcript": "XM_047416695.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 14,
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"gene_symbol": "SSBP3",
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"transcript": "ENST00000326956.12",
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"cds_start": -4,
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}
],
"gene_symbol": "SSBP3",
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"dbsnp": "rs4927095",
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"hom_count_reference_population": 1745,
"allele_count_reference_population": 18861,
"gnomad_exomes_af": 0.202703,
"gnomad_genomes_af": 0.123787,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 18846,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1742,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.494,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000610401.6",
"gene_symbol": "SSBP3",
"hgnc_id": 15674,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.276+44919G>C",
"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
}