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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: 14-75049532-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75049532&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75049532,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000355774.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "NM_001040108.2",
"protein_id": "NP_001035197.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1453,
"cds_start": 124,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": "ENST00000355774.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "ENST00000355774.7",
"protein_id": "ENSP00000348020.2",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 1453,
"cds_start": 124,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": "NM_001040108.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "ENST00000380968.6",
"protein_id": "ENSP00000370355.3",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 1429,
"cds_start": 124,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "NM_014381.3",
"protein_id": "NP_055196.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1429,
"cds_start": 124,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 7748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "ENST00000556257.5",
"protein_id": "ENSP00000451540.1",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 1275,
"cds_start": 124,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "ENST00000553263.1",
"protein_id": "ENSP00000451192.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 161,
"cds_start": 124,
"cds_end": null,
"cds_length": 487,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "ENST00000557648.1",
"protein_id": "ENSP00000451095.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 105,
"cds_start": 124,
"cds_end": null,
"cds_length": 319,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_006720116.5",
"protein_id": "XP_006720179.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1453,
"cds_start": 124,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 7761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_017021219.3",
"protein_id": "XP_016876708.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1429,
"cds_start": 124,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 7689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_005267532.6",
"protein_id": "XP_005267589.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1418,
"cds_start": 124,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 7715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_024449538.2",
"protein_id": "XP_024305306.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1418,
"cds_start": 124,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_005267533.6",
"protein_id": "XP_005267590.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1394,
"cds_start": 124,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 7643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_047431265.1",
"protein_id": "XP_047287221.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1394,
"cds_start": 124,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 7584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_047431266.1",
"protein_id": "XP_047287222.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1297,
"cds_start": 124,
"cds_end": null,
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"cdna_start": 275,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_047431267.1",
"protein_id": "XP_047287223.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1279,
"cds_start": 124,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_005267534.4",
"protein_id": "XP_005267591.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1275,
"cds_start": 124,
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"cdna_start": 275,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_047431268.1",
"protein_id": "XP_047287224.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1220,
"cds_start": 124,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr",
"transcript": "XM_047431269.1",
"protein_id": "XP_047287225.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1157,
"cds_start": 124,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 3683,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.275G>A",
"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,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.275G>A",
"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,
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"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.275G>A",
"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": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLH3",
"gene_hgnc_id": 7128,
"hgvs_c": "n.275G>A",
"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": "rs748676497",
"frequency_reference_population": 0.000048323906,
"hom_count_reference_population": 0,
"allele_count_reference_population": 78,
"gnomad_exomes_af": 0.0000499354,
"gnomad_genomes_af": 0.0000328476,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45992153882980347,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.317,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.837,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000355774.7",
"gene_symbol": "MLH3",
"hgnc_id": 7128,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Ala42Thr"
}
],
"clinvar_disease": " hereditary nonpolyposis, type 7,Colorectal cancer,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Colorectal cancer, hereditary nonpolyposis, type 7|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}