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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: 3-69939196-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69939196&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69939196,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000352241.9",
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.666+15G>C",
"hgvs_p": null,
"transcript": "NM_001354604.2",
"protein_id": "NP_001341533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "ENST00000352241.9",
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.666+15G>C",
"hgvs_p": null,
"transcript": "ENST00000352241.9",
"protein_id": "ENSP00000295600.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": "NM_001354604.2",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.345+15G>C",
"hgvs_p": null,
"transcript": "NM_000248.4",
"protein_id": "NP_000239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "ENST00000394351.9",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.345+15G>C",
"hgvs_p": null,
"transcript": "ENST00000394351.9",
"protein_id": "ENSP00000377880.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": "NM_000248.4",
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.345+15G>C",
"hgvs_p": null,
"transcript": "ENST00000314557.10",
"protein_id": "ENSP00000324246.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": -4,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1798,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.177+15G>C",
"hgvs_p": null,
"transcript": "ENST00000531774.1",
"protein_id": "ENSP00000435909.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": -4,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1074,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.663+15G>C",
"hgvs_p": null,
"transcript": "NM_001354605.2",
"protein_id": "NP_001341534.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
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"cds_length": 1578,
"cdna_start": null,
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"cdna_length": 4796,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.666+15G>C",
"hgvs_p": null,
"transcript": "NM_198159.3",
"protein_id": "NP_937802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4781,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "MITF",
"gene_hgnc_id": 7105,
"hgvs_c": "c.666+15G>C",
"hgvs_p": null,
"transcript": "ENST00000642352.1",
"protein_id": "ENSP00000494105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
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"cdna_length": 4767,
"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,
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"exon_count": 10,
"intron_rank": 4,
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"gene_symbol": "MITF",
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"hgvs_c": "c.663+15G>C",
"hgvs_p": null,
"transcript": "NM_001354606.2",
"protein_id": "NP_001341535.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 519,
"cds_start": -4,
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"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": 4,
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"gene_symbol": "MITF",
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"hgvs_c": "c.663+15G>C",
"hgvs_p": null,
"transcript": "NM_006722.3",
"protein_id": "NP_006713.1",
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},
{
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],
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"gene_symbol": "MITF",
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"transcript": "ENST00000448226.9",
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},
{
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],
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"gene_symbol": "MITF",
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"hgvs_c": "c.618+15G>C",
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"transcript": "NM_198177.3",
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},
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],
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"gene_symbol": "MITF",
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"transcript": "ENST00000314589.11",
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},
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],
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},
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],
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"gene_symbol": "MITF",
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"transcript": "ENST00000687384.1",
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},
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},
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],
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"gene_symbol": "MITF",
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"hgvs_c": "c.510+15G>C",
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"transcript": "NM_001184967.2",
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},
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],
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"gene_symbol": "MITF",
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"hgvs_c": "c.510+15G>C",
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],
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"gene_symbol": "MITF",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "MITF",
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"transcript": "ENST00000451708.5",
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},
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],
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"dbsnp": "rs201698367",
"frequency_reference_population": 0.00013609992,
"hom_count_reference_population": 0,
"allele_count_reference_population": 219,
"gnomad_exomes_af": 0.000135904,
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"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.39,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000352241.9",
"gene_symbol": "MITF",
"hgnc_id": 7105,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.666+15G>C",
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}
],
"clinvar_disease": " 8, cutaneous malignant, susceptibility to,Melanoma,Tietz syndrome,Waardenburg syndrome type 2A,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Tietz syndrome;Waardenburg syndrome type 2A;Melanoma, cutaneous malignant, susceptibility to, 8|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}