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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: 2-9521055-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9521055&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9521055,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000310823.8",
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.957+148A>G",
"hgvs_p": null,
"transcript": "NM_003183.6",
"protein_id": "NP_003174.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": -4,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": "ENST00000310823.8",
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.957+148A>G",
"hgvs_p": null,
"transcript": "ENST00000310823.8",
"protein_id": "ENSP00000309968.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": -4,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": "NM_003183.6",
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.867+148A>G",
"hgvs_p": null,
"transcript": "ENST00000699318.1",
"protein_id": "ENSP00000514297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3528,
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.297+148A>G",
"hgvs_p": null,
"transcript": "NM_001382777.1",
"protein_id": "NP_001369706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": -4,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4411,
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.957+148A>G",
"hgvs_p": null,
"transcript": "ENST00000699324.1",
"protein_id": "ENSP00000514300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4776,
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.957+148A>G",
"hgvs_p": null,
"transcript": "ENST00000699325.1",
"protein_id": "ENSP00000514301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2106,
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.60+148A>G",
"hgvs_p": null,
"transcript": "NM_001382778.1",
"protein_id": "NP_001369707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
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"cdna_length": 4416,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*417+148A>G",
"hgvs_p": null,
"transcript": "ENST00000647610.1",
"protein_id": "ENSP00000497929.1",
"transcript_support_level": null,
"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": 2513,
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*1221+148A>G",
"hgvs_p": null,
"transcript": "ENST00000647622.1",
"protein_id": "ENSP00000514299.1",
"transcript_support_level": null,
"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": 5715,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*487+148A>G",
"hgvs_p": null,
"transcript": "ENST00000647979.1",
"protein_id": "ENSP00000497542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.1184+148A>G",
"hgvs_p": null,
"transcript": "ENST00000648548.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 8,
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"gene_symbol": "ADAM17",
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"hgvs_c": "n.1027+148A>G",
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"transcript": "ENST00000648857.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ADAM17",
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"transcript": "ENST00000649068.2",
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},
{
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"strand": false,
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],
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"gene_symbol": "ADAM17",
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"hgvs_c": "n.*718+148A>G",
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"transcript": "ENST00000649227.1",
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "ADAM17",
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"hgvs_c": "n.3147+148A>G",
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"transcript": "ENST00000649972.1",
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},
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],
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "ADAM17",
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"hgvs_c": "n.905+148A>G",
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"transcript": "ENST00000650241.1",
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},
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],
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"exon_count": 18,
"intron_rank": 7,
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"gene_symbol": "ADAM17",
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"hgvs_c": "n.747+148A>G",
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],
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],
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],
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"hgvs_c": "n.3195+148A>G",
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"transcript": "ENST00000699319.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*338+148A>G",
"hgvs_p": null,
"transcript": "ENST00000699321.1",
"protein_id": "ENSP00000514298.1",
"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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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 20,
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"transcript": "XM_047445610.1",
"protein_id": "XP_047301566.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ADAM17",
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"transcript": "XM_047445611.1",
"protein_id": "XP_047301567.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 14,
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"gene_symbol": "ADAM17",
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"hgvs_c": "c.60+148A>G",
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"transcript": "XM_047445612.1",
"protein_id": "XP_047301568.1",
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"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3767,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"dbsnp": "rs4328603",
"frequency_reference_population": 0.586969,
"hom_count_reference_population": 87400,
"allele_count_reference_population": 272255,
"gnomad_exomes_af": 0.5654,
"gnomad_genomes_af": 0.632248,
"gnomad_exomes_ac": 177634,
"gnomad_genomes_ac": 94621,
"gnomad_exomes_homalt": 55994,
"gnomad_genomes_homalt": 31406,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.67,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000310823.8",
"gene_symbol": "ADAM17",
"hgnc_id": 195,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.957+148A>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}