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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: 2-9295012-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9295012&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9295012,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000281419.8",
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.200-2288A>G",
"hgvs_p": null,
"transcript": "NM_003887.3",
"protein_id": "NP_003878.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": -4,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": "ENST00000281419.8",
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.200-2288A>G",
"hgvs_p": null,
"transcript": "ENST00000281419.8",
"protein_id": "ENSP00000281419.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": -4,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": "NM_003887.3",
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.200-2288A>G",
"hgvs_p": null,
"transcript": "ENST00000315273.4",
"protein_id": "ENSP00000316404.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5582,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.200-2288A>G",
"hgvs_p": null,
"transcript": "NM_001135191.2",
"protein_id": "NP_001128663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5530,
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.233-2288A>G",
"hgvs_p": null,
"transcript": "XM_011510403.4",
"protein_id": "XP_011508705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": -4,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5707,
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.233-2288A>G",
"hgvs_p": null,
"transcript": "XM_011510404.3",
"protein_id": "XP_011508706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": -4,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5698,
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.200-2288A>G",
"hgvs_p": null,
"transcript": "XM_006711898.2",
"protein_id": "XP_006711961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1009,
"cds_start": -4,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
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"cdna_length": 5674,
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.233-2288A>G",
"hgvs_p": null,
"transcript": "XM_011510405.4",
"protein_id": "XP_011508707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 995,
"cds_start": -4,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5632,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.233-2288A>G",
"hgvs_p": null,
"transcript": "XM_047446199.1",
"protein_id": "XP_047302155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 992,
"cds_start": -4,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
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"cdna_length": 5623,
"mane_select": null,
"mane_plus": null,
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.200-2288A>G",
"hgvs_p": null,
"transcript": "XM_047446200.1",
"protein_id": "XP_047302156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 984,
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.107-2288A>G",
"hgvs_p": null,
"transcript": "XM_011510406.3",
"protein_id": "XP_011508708.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ASAP2",
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"transcript": "XM_011510407.3",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "ASAP2",
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"hgvs_c": "c.233-2288A>G",
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"transcript": "XM_047446201.1",
"protein_id": "XP_047302157.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "ASAP2",
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"hgvs_c": "c.83-2288A>G",
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"transcript": "XM_006711901.4",
"protein_id": "XP_006711964.1",
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},
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],
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"transcript": "XM_047446202.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "ASAP2",
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"hgvs_c": "c.200-2288A>G",
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"transcript": "XM_006711902.2",
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},
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],
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"gene_symbol": "ASAP2",
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"hgvs_c": "c.56-2288A>G",
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"transcript": "XM_047446205.1",
"protein_id": "XP_047302161.1",
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},
{
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"consequences": [
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],
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"exon_count": 24,
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"gene_symbol": "ASAP2",
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"hgvs_c": "c.233-2288A>G",
"hgvs_p": null,
"transcript": "XM_011510408.4",
"protein_id": "XP_011508710.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "ASAP2",
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"hgvs_c": "c.233-2288A>G",
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ASAP2",
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"hgvs_c": "c.83-2288A>G",
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"transcript": "XM_047446228.1",
"protein_id": "XP_047302184.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 2,
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"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.-155-2288A>G",
"hgvs_p": null,
"transcript": "XM_011510409.1",
"protein_id": "XP_011508711.1",
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},
{
"aa_ref": null,
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}
],
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"dbsnp": "rs17673165",
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"hom_count_reference_population": 3614,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.208471,
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"gnomad_genomes_ac": 31716,
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"gnomad_genomes_homalt": 3614,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.115,
"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,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000281419.8",
"gene_symbol": "ASAP2",
"hgnc_id": 2721,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.200-2288A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}