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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: X-71137916-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71137916&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71137916,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000374080.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6017A>C",
"hgvs_p": "p.Tyr2006Ser",
"transcript": "NM_005120.3",
"protein_id": "NP_005111.2",
"transcript_support_level": null,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2177,
"cds_start": 6017,
"cds_end": null,
"cds_length": 6534,
"cdna_start": 6176,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "ENST00000374080.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6017A>C",
"hgvs_p": "p.Tyr2006Ser",
"transcript": "ENST00000374080.8",
"protein_id": "ENSP00000363193.3",
"transcript_support_level": 1,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2177,
"cds_start": 6017,
"cds_end": null,
"cds_length": 6534,
"cdna_start": 6176,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "NM_005120.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6026A>C",
"hgvs_p": "p.Tyr2009Ser",
"transcript": "ENST00000374102.6",
"protein_id": "ENSP00000363215.2",
"transcript_support_level": 1,
"aa_start": 2009,
"aa_end": null,
"aa_length": 2180,
"cds_start": 6026,
"cds_end": null,
"cds_length": 6543,
"cdna_start": 6152,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6023A>C",
"hgvs_p": "p.Tyr2008Ser",
"transcript": "ENST00000690145.1",
"protein_id": "ENSP00000508818.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6023,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 6053,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6014A>C",
"hgvs_p": "p.Tyr2005Ser",
"transcript": "ENST00000692304.1",
"protein_id": "ENSP00000508427.1",
"transcript_support_level": null,
"aa_start": 2005,
"aa_end": null,
"aa_length": 2176,
"cds_start": 6014,
"cds_end": null,
"cds_length": 6531,
"cdna_start": 6226,
"cdna_end": null,
"cdna_length": 8628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.5951A>C",
"hgvs_p": "p.Tyr1984Ser",
"transcript": "ENST00000690242.1",
"protein_id": "ENSP00000510090.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
"aa_length": 2155,
"cds_start": 5951,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 6163,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.5942A>C",
"hgvs_p": "p.Tyr1981Ser",
"transcript": "ENST00000687382.1",
"protein_id": "ENSP00000510724.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2152,
"cds_start": 5942,
"cds_end": null,
"cds_length": 6459,
"cdna_start": 6141,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.5897A>C",
"hgvs_p": "p.Tyr1966Ser",
"transcript": "ENST00000333646.11",
"protein_id": "ENSP00000333125.8",
"transcript_support_level": 5,
"aa_start": 1966,
"aa_end": null,
"aa_length": 2137,
"cds_start": 5897,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 6056,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.3971A>C",
"hgvs_p": "p.Tyr1324Ser",
"transcript": "ENST00000693391.1",
"protein_id": "ENSP00000509563.1",
"transcript_support_level": null,
"aa_start": 1324,
"aa_end": null,
"aa_length": 1494,
"cds_start": 3971,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 3971,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.992A>C",
"hgvs_p": "p.Tyr331Ser",
"transcript": "ENST00000444034.2",
"protein_id": "ENSP00000404373.2",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 501,
"cds_start": 992,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.59A>C",
"hgvs_p": "p.Tyr20Ser",
"transcript": "ENST00000688231.1",
"protein_id": "ENSP00000508591.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 246,
"cds_start": 59,
"cds_end": null,
"cds_length": 741,
"cdna_start": 61,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6032A>C",
"hgvs_p": "p.Tyr2011Ser",
"transcript": "XM_047442699.1",
"protein_id": "XP_047298655.1",
"transcript_support_level": null,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2130,
"cds_start": 6032,
"cds_end": null,
"cds_length": 6393,
"cdna_start": 6191,
"cdna_end": null,
"cdna_length": 7312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6026A>C",
"hgvs_p": "p.Tyr2009Ser",
"transcript": "XM_047442700.1",
"protein_id": "XP_047298656.1",
"transcript_support_level": null,
"aa_start": 2009,
"aa_end": null,
"aa_length": 2128,
"cds_start": 6026,
"cds_end": null,
"cds_length": 6387,
"cdna_start": 6185,
"cdna_end": null,
"cdna_length": 7306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6023A>C",
"hgvs_p": "p.Tyr2008Ser",
"transcript": "XM_047442701.1",
"protein_id": "XP_047298657.1",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2127,
"cds_start": 6023,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 6182,
"cdna_end": null,
"cdna_length": 7303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6017A>C",
"hgvs_p": "p.Tyr2006Ser",
"transcript": "XM_047442702.1",
"protein_id": "XP_047298658.1",
"transcript_support_level": null,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2125,
"cds_start": 6017,
"cds_end": null,
"cds_length": 6378,
"cdna_start": 6176,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.5951A>C",
"hgvs_p": "p.Tyr1984Ser",
"transcript": "XM_047442703.1",
"protein_id": "XP_047298659.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
"aa_length": 2103,
"cds_start": 5951,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 6110,
"cdna_end": null,
"cdna_length": 7231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.5942A>C",
"hgvs_p": "p.Tyr1981Ser",
"transcript": "XM_047442704.1",
"protein_id": "XP_047298660.1",
"transcript_support_level": null,
"aa_start": 1981,
"aa_end": null,
"aa_length": 2100,
"cds_start": 5942,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 6101,
"cdna_end": null,
"cdna_length": 7222,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.2715A>C",
"hgvs_p": null,
"transcript": "ENST00000685182.1",
"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": 3446,
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.2403A>C",
"hgvs_p": null,
"transcript": "ENST00000686169.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3148,
"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": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.*5922A>C",
"hgvs_p": null,
"transcript": "ENST00000686548.1",
"protein_id": "ENSP00000509582.1",
"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": 6852,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.2732A>C",
"hgvs_p": null,
"transcript": "ENST00000687161.1",
"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": 3481,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.2776A>C",
"hgvs_p": null,
"transcript": "ENST00000687701.1",
"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": 3499,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.690A>C",
"hgvs_p": null,
"transcript": "ENST00000687973.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"alphamissense_score": 0.1375,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.327,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000374080.8",
"gene_symbol": "MED12",
"hgnc_id": 11957,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.6017A>C",
"hgvs_p": "p.Tyr2006Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000740246.1",
"gene_symbol": "ENSG00000228427",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.462+2820T>G",
"hgvs_p": null
}
],
"clinvar_disease": "FG syndrome,Familial thoracic aortic aneurysm and aortic dissection,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not specified|FG syndrome|not provided|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}