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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: 1-58696476-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=58696476&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 58696476,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000472487.6",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "c.69-1269A>G",
"hgvs_p": null,
"transcript": "NM_001085487.3",
"protein_id": "NP_001078956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": -4,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "ENST00000472487.6",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "c.69-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000472487.6",
"protein_id": "ENSP00000418734.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": -4,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "NM_001085487.3",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "n.89-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000483003.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2231,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "c.69-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000697255.1",
"protein_id": "ENSP00000513212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": -4,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7657,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "c.69-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000655340.1",
"protein_id": "ENSP00000499373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4436,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "n.94-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000489282.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283445",
"gene_hgnc_id": null,
"hgvs_c": "n.162-18356T>C",
"hgvs_p": null,
"transcript": "ENST00000637377.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 2613,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "n.69-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000659108.1",
"protein_id": "ENSP00000499571.1",
"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": 5354,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "n.69-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000659812.2",
"protein_id": "ENSP00000499686.2",
"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": 3586,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "n.69-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000665648.1",
"protein_id": "ENSP00000499586.1",
"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": 7192,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "n.69-1269A>G",
"hgvs_p": null,
"transcript": "ENST00000697253.1",
"protein_id": "ENSP00000513210.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7595,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "MYSM1",
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"hgvs_c": "n.69-1269A>G",
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"transcript": "ENST00000697254.1",
"protein_id": "ENSP00000513211.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "MYSM1",
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"hgvs_c": "n.79-1269A>G",
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"transcript": "ENST00000697257.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "MYSM1",
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"hgvs_c": "n.85-1269A>G",
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"transcript": "ENST00000697261.1",
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},
{
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"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "MYSM1",
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"hgvs_c": "n.89-1269A>G",
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"transcript": "ENST00000697263.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "n.78+3509A>G",
"hgvs_p": null,
"transcript": "ENST00000697264.1",
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},
{
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],
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283445",
"gene_hgnc_id": null,
"hgvs_c": "n.143-18356T>C",
"hgvs_p": null,
"transcript": "ENST00000767022.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "c.69-1269A>G",
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"transcript": "XM_006710314.4",
"protein_id": "XP_006710377.1",
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},
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],
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},
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"consequences": [
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],
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "MYSM1",
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"hgvs_c": "c.69-1269A>G",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"hgvs_c": "n.79-1269A>G",
"hgvs_p": null,
"transcript": "XR_946533.3",
"protein_id": null,
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"cds_start": -4,
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"cdna_length": 2353,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "MYSM1",
"gene_hgnc_id": 29401,
"dbsnp": "rs2811893",
"frequency_reference_population": 0.38782668,
"hom_count_reference_population": 11566,
"allele_count_reference_population": 58945,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.387827,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 58945,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11566,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"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": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.37,
"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": "ENST00000472487.6",
"gene_symbol": "MYSM1",
"hgnc_id": 29401,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.69-1269A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000767021.1",
"gene_symbol": "ENSG00000283445",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.189-18356T>C",
"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
}