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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: 14-75017150-AGAGAC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75017150&ref=AGAGAC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75017150,
"ref": "AGAGAC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000355774.7",
"consequences": [
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4289_4293delGTCTC",
"hgvs_p": "p.Arg1430fs",
"transcript": "NM_001040108.2",
"protein_id": "NP_001035197.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1453,
"cds_start": 4289,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 4444,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": "ENST00000355774.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4289_4293delGTCTC",
"hgvs_p": "p.Arg1430fs",
"transcript": "ENST00000355774.7",
"protein_id": "ENSP00000348020.2",
"transcript_support_level": 5,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1453,
"cds_start": 4289,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 4444,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": "NM_001040108.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4217_4221delGTCTC",
"hgvs_p": "p.Arg1406fs",
"transcript": "ENST00000380968.6",
"protein_id": "ENSP00000370355.3",
"transcript_support_level": 1,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4217,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4437,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4217_4221delGTCTC",
"hgvs_p": "p.Arg1406fs",
"transcript": "NM_014381.3",
"protein_id": "NP_055196.2",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4217,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4372,
"cdna_end": null,
"cdna_length": 7748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.3755_3759delGTCTC",
"hgvs_p": "p.Arg1252fs",
"transcript": "ENST00000556257.5",
"protein_id": "ENSP00000451540.1",
"transcript_support_level": 5,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3755,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.1358_1362delGTCTC",
"hgvs_p": "p.Arg453fs",
"transcript": "ENST00000553713.5",
"protein_id": "ENSP00000451130.1",
"transcript_support_level": 5,
"aa_start": 453,
"aa_end": null,
"aa_length": 476,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4289_4293delGTCTC",
"hgvs_p": "p.Arg1430fs",
"transcript": "XM_006720116.5",
"protein_id": "XP_006720179.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1453,
"cds_start": 4289,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 4385,
"cdna_end": null,
"cdna_length": 7761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4217_4221delGTCTC",
"hgvs_p": "p.Arg1406fs",
"transcript": "XM_017021219.3",
"protein_id": "XP_016876708.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4217,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 7689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4184_4188delGTCTC",
"hgvs_p": "p.Arg1395fs",
"transcript": "XM_005267532.6",
"protein_id": "XP_005267589.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1418,
"cds_start": 4184,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 4339,
"cdna_end": null,
"cdna_length": 7715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4184_4188delGTCTC",
"hgvs_p": "p.Arg1395fs",
"transcript": "XM_024449538.2",
"protein_id": "XP_024305306.1",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1418,
"cds_start": 4184,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 4280,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4112_4116delGTCTC",
"hgvs_p": "p.Arg1371fs",
"transcript": "XM_005267533.6",
"protein_id": "XP_005267590.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1394,
"cds_start": 4112,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 4267,
"cdna_end": null,
"cdna_length": 7643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.4112_4116delGTCTC",
"hgvs_p": "p.Arg1371fs",
"transcript": "XM_047431265.1",
"protein_id": "XP_047287221.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1394,
"cds_start": 4112,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 4208,
"cdna_end": null,
"cdna_length": 7584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.302_306delGTCTC",
"hgvs_p": null,
"transcript": "ENST00000554697.5",
"protein_id": "ENSP00000451055.1",
"transcript_support_level": 3,
"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": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.331_335delGTCTC",
"hgvs_p": null,
"transcript": "ENST00000555415.1",
"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": 700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.4368_4372delGTCTC",
"hgvs_p": null,
"transcript": "XR_001750225.3",
"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": 6603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.4335_4339delGTCTC",
"hgvs_p": null,
"transcript": "XR_007064004.1",
"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": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.4263_4267delGTCTC",
"hgvs_p": null,
"transcript": "XR_007064005.1",
"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": 6498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.4440_4444delGTCTC",
"hgvs_p": null,
"transcript": "XR_245681.5",
"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": 6675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"dbsnp": "rs1450109980",
"frequency_reference_population": 0.000008679705,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889411,
"gnomad_genomes_af": 0.00000660869,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.907,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000355774.7",
"gene_symbol": "MLH3",
"hgnc_id": 7128,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4289_4293delGTCTC",
"hgvs_p": "p.Arg1430fs"
}
],
"clinvar_disease": " hereditary nonpolyposis, type 7,Colorectal cancer,Endometrial carcinoma",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Colorectal cancer, hereditary nonpolyposis, type 7|Endometrial carcinoma;Colorectal cancer, hereditary nonpolyposis, type 7;Colorectal cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}