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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: 14-52905612-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=52905612&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 52905612,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000341590.8",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "NM_006832.3",
"protein_id": "NP_006823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": "ENST00000341590.8",
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000341590.8",
"protein_id": "ENSP00000340391.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": "NM_006832.3",
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000553373.5",
"protein_id": "ENSP00000451084.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2064,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000395631.6",
"protein_id": "ENSP00000378993.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3369,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000399304.7",
"protein_id": "ENSP00000382243.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105370500",
"gene_hgnc_id": null,
"hgvs_c": "n.770T>G",
"hgvs_p": null,
"transcript": "XR_007064167.1",
"protein_id": null,
"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": 793,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "NM_001134999.2",
"protein_id": "NP_001128471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3307,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000343279.8",
"protein_id": "ENSP00000342858.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3247,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.218-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000554152.5",
"protein_id": "ENSP00000450741.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "NM_001135000.2",
"protein_id": "NP_001128472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
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"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.77-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000554288.1",
"protein_id": "ENSP00000451268.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 700,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "FERMT2",
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"hgvs_c": "c.392-12185A>C",
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"transcript": "ENST00000554712.5",
"protein_id": "ENSP00000450506.1",
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.260-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000555692.5",
"protein_id": "ENSP00000452472.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "n.*213-12185A>C",
"hgvs_p": null,
"transcript": "ENST00000557562.1",
"protein_id": "ENSP00000451085.1",
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"aa_start": null,
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},
{
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],
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"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.750+7458T>G",
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"transcript": "ENST00000649005.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.491+7458T>G",
"hgvs_p": null,
"transcript": "ENST00000653549.1",
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},
{
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],
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"gene_symbol": "ENSG00000285664",
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"hgvs_c": "n.653+7458T>G",
"hgvs_p": null,
"transcript": "ENST00000654071.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.627+7462T>G",
"hgvs_p": null,
"transcript": "ENST00000658290.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285664",
"gene_hgnc_id": null,
"hgvs_c": "n.631+7458T>G",
"hgvs_p": null,
"transcript": "ENST00000740961.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "FERMT2",
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"hgvs_c": "c.392-12185A>C",
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"transcript": "XM_006720008.4",
"protein_id": "XP_006720071.1",
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},
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "FERMT2",
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"hgvs_c": "c.392-12185A>C",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "XM_006720010.4",
"protein_id": "XP_006720073.1",
"transcript_support_level": null,
"aa_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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FERMT2",
"gene_hgnc_id": 15767,
"hgvs_c": "c.392-12185A>C",
"hgvs_p": null,
"transcript": "XM_005267285.4",
"protein_id": "XP_005267342.1",
"transcript_support_level": null,
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"mane_select": null,
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},
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"exon_count": 3,
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"gene_symbol": "LOC105370500",
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"transcript": "XR_943867.3",
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"cds_start": -4,
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}
],
"gene_symbol": "FERMT2",
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"dbsnp": "rs8008270",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131603,
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"gnomad_genomes_ac": 2,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.952,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000341590.8",
"gene_symbol": "FERMT2",
"hgnc_id": 15767,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.392-12185A>C",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007064167.1",
"gene_symbol": "LOC105370500",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.770T>G",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649005.1",
"gene_symbol": "ENSG00000285664",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.750+7458T>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
}