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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: 19-48716202-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48716202&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48716202,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001130915.2",
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.98-435A>G",
"hgvs_p": null,
"transcript": "NM_001130915.2",
"protein_id": "NP_001124387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": null,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": "ENST00000318083.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130915.2"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.98-435A>G",
"hgvs_p": null,
"transcript": "ENST00000318083.11",
"protein_id": "ENSP00000324175.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": null,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": "NM_001130915.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318083.11"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.-362-285A>G",
"hgvs_p": null,
"transcript": "ENST00000594582.1",
"protein_id": "ENSP00000471590.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594582.1"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.98-285A>G",
"hgvs_p": null,
"transcript": "ENST00000599703.2",
"protein_id": "ENSP00000469544.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599703.2"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.-362-285A>G",
"hgvs_p": null,
"transcript": "NM_182574.3",
"protein_id": "NP_872380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182574.3"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.-362-285A>G",
"hgvs_p": null,
"transcript": "ENST00000356751.8",
"protein_id": "ENSP00000349192.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356751.8"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.-362-285A>G",
"hgvs_p": null,
"transcript": "NM_001297753.2",
"protein_id": "NP_001284682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297753.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.-242-405A>G",
"hgvs_p": null,
"transcript": "ENST00000595591.1",
"protein_id": "ENSP00000469127.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 10,
"cds_start": null,
"cds_end": null,
"cds_length": 34,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595591.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.152-246A>G",
"hgvs_p": null,
"transcript": "XM_017026640.2",
"protein_id": "XP_016882129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026640.2"
},
{
"aa_ref": null,
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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": 2,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.152-285A>G",
"hgvs_p": null,
"transcript": "XM_017026641.2",
"protein_id": "XP_016882130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026641.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.98-246A>G",
"hgvs_p": null,
"transcript": "XM_011526808.3",
"protein_id": "XP_011525110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"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_011526808.3"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.152-405A>G",
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"transcript": "XM_017026643.2",
"protein_id": "XP_016882132.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 443,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017026643.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.152-435A>G",
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"transcript": "XM_017026644.2",
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},
{
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"strand": false,
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],
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"gene_symbol": "MAMSTR",
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"transcript": "XM_047438641.1",
"protein_id": "XP_047294597.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.152-285A>G",
"hgvs_p": null,
"transcript": "XM_024451461.2",
"protein_id": "XP_024307229.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_024451461.2"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.152-435A>G",
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"transcript": "XM_047438642.1",
"protein_id": "XP_047294598.1",
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"biotype": "protein_coding",
"feature": "XM_047438642.1"
},
{
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"protein_coding": true,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 3,
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"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.98-435A>G",
"hgvs_p": null,
"transcript": "XM_047438643.1",
"protein_id": "XP_047294599.1",
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"biotype": "protein_coding",
"feature": "XM_047438643.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.-394-253A>G",
"hgvs_p": null,
"transcript": "XM_011526807.3",
"protein_id": "XP_011525109.1",
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"feature": "XM_011526807.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "MAMSTR",
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"hgvs_c": "c.-394-253A>G",
"hgvs_p": null,
"transcript": "XM_011526809.3",
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"biotype": "protein_coding",
"feature": "XM_011526809.3"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"hgvs_c": "c.-394-253A>G",
"hgvs_p": null,
"transcript": "XM_047438640.1",
"protein_id": "XP_047294596.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047438640.1"
}
],
"gene_symbol": "MAMSTR",
"gene_hgnc_id": 26689,
"dbsnp": "rs660745",
"frequency_reference_population": 0.46039808,
"hom_count_reference_population": 16986,
"allele_count_reference_population": 69626,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.460398,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 69626,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 16986,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.396,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "NM_001130915.2",
"gene_symbol": "MAMSTR",
"hgnc_id": 26689,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.98-435A>G",
"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
}