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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: 10-74536031-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=74536031&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 74536031,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000539909.6",
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.726+10605A>T",
"hgvs_p": null,
"transcript": "NM_006721.4",
"protein_id": "NP_006712.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": "ENST00000539909.6",
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.726+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000539909.6",
"protein_id": "ENSP00000443965.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": "NM_006721.4",
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.726+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000286621.7",
"protein_id": "ENSP00000286621.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1622,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.675+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000372734.5",
"protein_id": "ENSP00000361819.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.*8257A>T",
"hgvs_p": null,
"transcript": "XM_017015704.2",
"protein_id": "XP_016871193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": -4,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.*8257A>T",
"hgvs_p": null,
"transcript": "XM_017015706.2",
"protein_id": "XP_016871195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": -4,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9216,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.675+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000541550.6",
"protein_id": "ENSP00000438321.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": -4,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1752,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.675+10605A>T",
"hgvs_p": null,
"transcript": "NM_001123.4",
"protein_id": "NP_001114.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1993,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.621+10605A>T",
"hgvs_p": null,
"transcript": "NM_001202449.2",
"protein_id": "NP_001189378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1939,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.621+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000673027.1",
"protein_id": "ENSP00000500201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1188,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.556-53251A>T",
"hgvs_p": null,
"transcript": "NM_001202450.2",
"protein_id": "NP_001189379.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 305,
"cds_start": -4,
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"cds_length": 918,
"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADK",
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"hgvs_c": "c.556-53251A>T",
"hgvs_p": null,
"transcript": "ENST00000672429.1",
"protein_id": "ENSP00000500292.1",
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"aa_start": null,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.726+10605A>T",
"hgvs_p": null,
"transcript": "NM_001369123.1",
"protein_id": "NP_001356052.1",
"transcript_support_level": null,
"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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"exon_count": 10,
"intron_rank": 7,
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"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.726+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000673352.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "ADK",
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"hgvs_c": "c.505-53251A>T",
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"transcript": "NM_001369124.1",
"protein_id": "NP_001356053.1",
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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": 12,
"intron_rank": 8,
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"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.450+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000672394.1",
"protein_id": "ENSP00000500390.1",
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "ADK",
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"hgvs_c": "c.465+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000672604.1",
"protein_id": "ENSP00000499911.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.*471+10605A>T",
"hgvs_p": null,
"transcript": "ENST00000672920.1",
"protein_id": "ENSP00000500141.1",
"transcript_support_level": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
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"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.*319+7938A>T",
"hgvs_p": null,
"transcript": "ENST00000673310.1",
"protein_id": "ENSP00000500097.1",
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},
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],
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"gene_symbol": "ADK",
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"hgvs_c": "c.726+10605A>T",
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},
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],
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"intron_rank": 7,
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"gene_symbol": "ADK",
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"hgvs_c": "c.675+10605A>T",
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"transcript": "XM_047424620.1",
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},
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADK",
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"hgvs_c": "c.531+10605A>T",
"hgvs_p": null,
"transcript": "XM_017015699.2",
"protein_id": "XP_016871188.1",
"transcript_support_level": null,
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"cds_start": -4,
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"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.675+10605A>T",
"hgvs_p": null,
"transcript": "XM_017015702.2",
"protein_id": "XP_016871191.1",
"transcript_support_level": null,
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"aa_length": 277,
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"cdna_start": null,
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},
{
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{
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{
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}
],
"gene_symbol": "ADK",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.534,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000539909.6",
"gene_symbol": "ADK",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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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
}