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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: 17-46730994-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46730994&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46730994,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000398238.8",
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1908+2060G>A",
"hgvs_p": null,
"transcript": "NM_006178.4",
"protein_id": "NP_006169.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": "ENST00000398238.8",
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1908+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000398238.8",
"protein_id": "ENSP00000381293.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": "NM_006178.4",
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1908+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000465370.2",
"protein_id": "ENSP00000467779.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4043,
"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": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1908+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000706392.1",
"protein_id": "ENSP00000516369.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2587,
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1908+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000706391.1",
"protein_id": "ENSP00000516368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": -4,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3936,
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1908+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000706373.1",
"protein_id": "ENSP00000516356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2583,
"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": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1893+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000575068.5",
"protein_id": "ENSP00000458221.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2667,
"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": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1893+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000576040.6",
"protein_id": "ENSP00000460152.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4306,
"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": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1893+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000706400.1",
"protein_id": "ENSP00000516376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1908+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000706393.1",
"protein_id": "ENSP00000516370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"hgvs_c": "c.1626+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000706399.1",
"protein_id": "ENSP00000516375.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 650,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 15,
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"gene_symbol": "NSF",
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"transcript": "ENST00000706396.1",
"protein_id": "ENSP00000516372.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 18,
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"gene_symbol": "NSF",
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"transcript": "ENST00000706395.1",
"protein_id": "ENSP00000516371.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "NSF",
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"hgvs_c": "c.1471-18779G>A",
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"transcript": "ENST00000706398.1",
"protein_id": "ENSP00000516374.1",
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},
{
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],
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"transcript": "ENST00000571864.6",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "NSF",
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"hgvs_c": "n.494+2060G>A",
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},
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "NSF",
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"hgvs_c": "n.*441+2060G>A",
"hgvs_p": null,
"transcript": "ENST00000706397.1",
"protein_id": "ENSP00000516373.1",
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},
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],
"exon_rank": null,
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"exon_count": 21,
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"intron_rank_end": null,
"gene_symbol": "NSF",
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"hgvs_c": "n.*1651+2060G>A",
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},
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],
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},
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],
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},
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],
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"intron_rank": 16,
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"gene_symbol": "NSF",
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"hgvs_c": "n.1975+2060G>A",
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"transcript": "NR_040116.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.4809+180475G>A",
"hgvs_p": null,
"transcript": "XM_024450773.2",
"protein_id": "XP_024306541.1",
"transcript_support_level": null,
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}
],
"gene_symbol": "NSF",
"gene_hgnc_id": 8016,
"dbsnp": "rs35937770",
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"hom_count_reference_population": 5836,
"allele_count_reference_population": 37700,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.248033,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 37700,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5836,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.931,
"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": "ENST00000398238.8",
"gene_symbol": "NSF",
"hgnc_id": 8016,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1908+2060G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XM_024450773.2",
"gene_symbol": "LRRC37A2",
"hgnc_id": 32404,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4809+180475G>A",
"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
}