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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-71140829-G-GGCAGCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71140829&ref=G&alt=GGCAGCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71140829,
"ref": "G",
"alt": "GGCAGCA",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000374080.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6253_6258dupCAGCAG",
"hgvs_p": "p.Gln2085_Gln2086dup",
"transcript": "NM_005120.3",
"protein_id": "NP_005111.2",
"transcript_support_level": null,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2177,
"cds_start": 6259,
"cds_end": null,
"cds_length": 6534,
"cdna_start": 6418,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "ENST00000374080.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6253_6258dupCAGCAG",
"hgvs_p": "p.Gln2085_Gln2086dup",
"transcript": "ENST00000374080.8",
"protein_id": "ENSP00000363193.3",
"transcript_support_level": 1,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2177,
"cds_start": 6259,
"cds_end": null,
"cds_length": 6534,
"cdna_start": 6418,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "NM_005120.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6262_6267dupCAGCAG",
"hgvs_p": "p.Gln2088_Gln2089dup",
"transcript": "ENST00000374102.6",
"protein_id": "ENSP00000363215.2",
"transcript_support_level": 1,
"aa_start": 2090,
"aa_end": null,
"aa_length": 2180,
"cds_start": 6268,
"cds_end": null,
"cds_length": 6543,
"cdna_start": 6394,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6259_6264dupCAGCAG",
"hgvs_p": "p.Gln2087_Gln2088dup",
"transcript": "ENST00000690145.1",
"protein_id": "ENSP00000508818.1",
"transcript_support_level": null,
"aa_start": 2089,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6265,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 6295,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6250_6255dupCAGCAG",
"hgvs_p": "p.Gln2084_Gln2085dup",
"transcript": "ENST00000692304.1",
"protein_id": "ENSP00000508427.1",
"transcript_support_level": null,
"aa_start": 2086,
"aa_end": null,
"aa_length": 2176,
"cds_start": 6256,
"cds_end": null,
"cds_length": 6531,
"cdna_start": 6468,
"cdna_end": null,
"cdna_length": 8628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6187_6192dupCAGCAG",
"hgvs_p": "p.Gln2063_Gln2064dup",
"transcript": "ENST00000690242.1",
"protein_id": "ENSP00000510090.1",
"transcript_support_level": null,
"aa_start": 2065,
"aa_end": null,
"aa_length": 2155,
"cds_start": 6193,
"cds_end": null,
"cds_length": 6468,
"cdna_start": 6405,
"cdna_end": null,
"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6178_6183dupCAGCAG",
"hgvs_p": "p.Gln2060_Gln2061dup",
"transcript": "ENST00000687382.1",
"protein_id": "ENSP00000510724.1",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 2152,
"cds_start": 6184,
"cds_end": null,
"cds_length": 6459,
"cdna_start": 6383,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"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.6133_6138dupCAGCAG",
"hgvs_p": "p.Gln2045_Gln2046dup",
"transcript": "ENST00000333646.11",
"protein_id": "ENSP00000333125.8",
"transcript_support_level": 5,
"aa_start": 2047,
"aa_end": null,
"aa_length": 2137,
"cds_start": 6139,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 6298,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4207_4212dupCAGCAG",
"hgvs_p": "p.Gln1403_Gln1404dup",
"transcript": "ENST00000693391.1",
"protein_id": "ENSP00000509563.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1494,
"cds_start": 4213,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 4213,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.1228_1233dupCAGCAG",
"hgvs_p": "p.Gln410_Gln411dup",
"transcript": "ENST00000444034.2",
"protein_id": "ENSP00000404373.2",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 501,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.295_300dupCAGCAG",
"hgvs_p": "p.Gln99_Gln100dup",
"transcript": "ENST00000688231.1",
"protein_id": "ENSP00000508591.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 246,
"cds_start": 301,
"cds_end": null,
"cds_length": 741,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6268_6273dupCAGCAG",
"hgvs_p": "p.Gln2090_Gln2091dup",
"transcript": "XM_047442699.1",
"protein_id": "XP_047298655.1",
"transcript_support_level": null,
"aa_start": 2092,
"aa_end": null,
"aa_length": 2130,
"cds_start": 6274,
"cds_end": null,
"cds_length": 6393,
"cdna_start": 6433,
"cdna_end": null,
"cdna_length": 7312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6262_6267dupCAGCAG",
"hgvs_p": "p.Gln2088_Gln2089dup",
"transcript": "XM_047442700.1",
"protein_id": "XP_047298656.1",
"transcript_support_level": null,
"aa_start": 2090,
"aa_end": null,
"aa_length": 2128,
"cds_start": 6268,
"cds_end": null,
"cds_length": 6387,
"cdna_start": 6427,
"cdna_end": null,
"cdna_length": 7306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6259_6264dupCAGCAG",
"hgvs_p": "p.Gln2087_Gln2088dup",
"transcript": "XM_047442701.1",
"protein_id": "XP_047298657.1",
"transcript_support_level": null,
"aa_start": 2089,
"aa_end": null,
"aa_length": 2127,
"cds_start": 6265,
"cds_end": null,
"cds_length": 6384,
"cdna_start": 6424,
"cdna_end": null,
"cdna_length": 7303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6253_6258dupCAGCAG",
"hgvs_p": "p.Gln2085_Gln2086dup",
"transcript": "XM_047442702.1",
"protein_id": "XP_047298658.1",
"transcript_support_level": null,
"aa_start": 2087,
"aa_end": null,
"aa_length": 2125,
"cds_start": 6259,
"cds_end": null,
"cds_length": 6378,
"cdna_start": 6418,
"cdna_end": null,
"cdna_length": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6187_6192dupCAGCAG",
"hgvs_p": "p.Gln2063_Gln2064dup",
"transcript": "XM_047442703.1",
"protein_id": "XP_047298659.1",
"transcript_support_level": null,
"aa_start": 2065,
"aa_end": null,
"aa_length": 2103,
"cds_start": 6193,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 6352,
"cdna_end": null,
"cdna_length": 7231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "QQI",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.6178_6183dupCAGCAG",
"hgvs_p": "p.Gln2060_Gln2061dup",
"transcript": "XM_047442704.1",
"protein_id": "XP_047298660.1",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 2100,
"cds_start": 6184,
"cds_end": null,
"cds_length": 6303,
"cdna_start": 6343,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.2951_2956dupCAGCAG",
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.2639_2644dupCAGCAG",
"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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"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": 42,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.*6158_*6163dupCAGCAG",
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.2968_2973dupCAGCAG",
"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": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "n.3012_3017dupCAGCAG",
"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,
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"feature": null
}
],
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"dbsnp": "rs786200971",
"frequency_reference_population": 0.000027566044,
"hom_count_reference_population": 7,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000247526,
"gnomad_genomes_af": 0.0000564276,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 6,
"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": 0.241,
"phylop100way_prediction": "Benign",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000374080.8",
"gene_symbol": "MED12",
"hgnc_id": 11957,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.6253_6258dupCAGCAG",
"hgvs_p": "p.Gln2085_Gln2086dup"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000740246.1",
"gene_symbol": "ENSG00000228427",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.363_368dupTGCTGC",
"hgvs_p": null
}
],
"clinvar_disease": "FG syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|FG syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}