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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: 4-75935287-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=75935287&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 75935287,
"ref": "T",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000507187.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.*816A>T",
"hgvs_p": null,
"transcript": "ENST00000507187.2",
"protein_id": "ENSP00000423142.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507187.2"
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "NM_014435.4",
"protein_id": "NP_055250.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286733.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014435.4"
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "ENST00000286733.9",
"protein_id": "ENSP00000286733.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014435.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286733.9"
},
{
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.525+822A>T",
"hgvs_p": null,
"transcript": "ENST00000967490.1",
"protein_id": "ENSP00000637549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": null,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967490.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "ENST00000718295.1",
"protein_id": "ENSP00000520730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718295.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "ENST00000967492.1",
"protein_id": "ENSP00000637551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967492.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "NM_001042402.2",
"protein_id": "NP_001035861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042402.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "NM_001363719.2",
"protein_id": "NP_001350648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363719.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "ENST00000507956.5",
"protein_id": "ENSP00000427641.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507956.5"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.333+822A>T",
"hgvs_p": null,
"transcript": "ENST00000967491.1",
"protein_id": "ENSP00000637550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967491.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.195+822A>T",
"hgvs_p": null,
"transcript": "ENST00000505594.1",
"protein_id": "ENSP00000426977.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505594.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "NAAA",
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"hgvs_c": "c.120+822A>T",
"hgvs_p": null,
"transcript": "ENST00000602782.5",
"protein_id": "ENSP00000473575.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602782.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "XM_017008028.3",
"protein_id": "XP_016863517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"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_017008028.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "NAAA",
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"transcript": "XM_017008029.3",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "XM_011531852.4",
"protein_id": "XP_011530154.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531852.4"
},
{
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],
"exon_rank": null,
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"gene_symbol": "NAAA",
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"hgvs_c": "c.498+822A>T",
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"transcript": "XM_006714180.4",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "NAAA",
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"hgvs_c": "c.498+822A>T",
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"transcript": "XM_005262921.5",
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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": 10,
"intron_rank": 3,
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"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "XM_017008030.3",
"protein_id": "XP_016863519.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "NAAA",
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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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"intron_rank": 3,
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"gene_symbol": "NAAA",
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"transcript": "XM_005262924.4",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_005262924.4"
},
{
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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": 3,
"intron_rank_end": null,
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"hgvs_c": "c.498+822A>T",
"hgvs_p": null,
"transcript": "XM_011531854.4",
"protein_id": "XP_011530156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531854.4"
}
],
"gene_symbol": "NAAA",
"gene_hgnc_id": 736,
"dbsnp": "rs11732759",
"frequency_reference_population": 0.3432087,
"hom_count_reference_population": 9999,
"allele_count_reference_population": 52189,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.343209,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 52189,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 9999,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"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": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.051,
"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": "ENST00000507187.2",
"gene_symbol": "NAAA",
"hgnc_id": 736,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*816A>T",
"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
}