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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: X-154706415-C-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154706415&ref=C&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154706415,
"ref": "C",
"alt": "CA",
"effect": "intron_variant",
"transcript": "NM_001081573.3",
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1069+5813dupT",
"hgvs_p": null,
"transcript": "NM_001081573.3",
"protein_id": "NP_001075042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424127.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081573.3"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1069+5813_1069+5814insT",
"hgvs_p": null,
"transcript": "ENST00000424127.3",
"protein_id": "ENSP00000399588.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001081573.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424127.3"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1066+5813_1066+5814insT",
"hgvs_p": null,
"transcript": "ENST00000369575.7",
"protein_id": "ENSP00000358588.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369575.7"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "n.617-6357_617-6356insT",
"hgvs_p": null,
"transcript": "ENST00000496390.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000496390.5"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1066+5813dupT",
"hgvs_p": null,
"transcript": "NM_080612.4",
"protein_id": "NP_542179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080612.4"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1069+5813_1069+5814insT",
"hgvs_p": null,
"transcript": "ENST00000872120.1",
"protein_id": "ENSP00000542179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872120.1"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.991+5813_991+5814insT",
"hgvs_p": null,
"transcript": "ENST00000872121.1",
"protein_id": "ENSP00000542180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872121.1"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1069+5813dupT",
"hgvs_p": null,
"transcript": "NM_001282283.2",
"protein_id": "NP_001269212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282283.2"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1069+5813_1069+5814insT",
"hgvs_p": null,
"transcript": "ENST00000369568.8",
"protein_id": "ENSP00000358581.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369568.8"
},
{
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1066+5813_1066+5814insT",
"hgvs_p": null,
"transcript": "ENST00000872123.1",
"protein_id": "ENSP00000542182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872123.1"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.898+5813_898+5814insT",
"hgvs_p": null,
"transcript": "ENST00000872122.1",
"protein_id": "ENSP00000542181.1",
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"aa_start": null,
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"aa_length": 530,
"cds_start": null,
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"cdna_start": null,
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},
{
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"consequences": [
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],
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"exon_count": 3,
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"gene_symbol": "GAB3",
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"hgvs_c": "c.73-26168_73-26167insT",
"hgvs_p": null,
"transcript": "ENST00000943825.1",
"protein_id": "ENSP00000613884.1",
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "GAB3",
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"hgvs_c": "c.1069+5813dupT",
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"transcript": "XM_011531103.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "GAB3",
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},
{
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],
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"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1069+5813dupT",
"hgvs_p": null,
"transcript": "XM_006724804.2",
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},
{
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],
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},
{
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],
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"gene_symbol": "GAB3",
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"hgvs_c": "c.1069+5813dupT",
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"transcript": "XM_047441833.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "c.1069+5813dupT",
"hgvs_p": null,
"transcript": "XM_011531106.2",
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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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],
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"gene_symbol": "GAB3",
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"transcript": "NR_104114.2",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "NR_104114.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"hgvs_c": "n.1121+5813dupT",
"hgvs_p": null,
"transcript": "XR_938505.2",
"protein_id": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_938505.2"
}
],
"gene_symbol": "GAB3",
"gene_hgnc_id": 17515,
"dbsnp": "rs35975601",
"frequency_reference_population": 0.13428348,
"hom_count_reference_population": 3753,
"allele_count_reference_population": 12550,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.134283,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 12550,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1430,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.193,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001081573.3",
"gene_symbol": "GAB3",
"hgnc_id": 17515,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1069+5813dupT",
"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
}