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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-71131613-CCT-TCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71131613&ref=CCT&alt=TCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MED12",
"hgnc_id": 11957,
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005120.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000228427",
"hgnc_id": null,
"hgvs_c": "n.463-8422_463-8420delAGGinsGGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000740246.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2177,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6925,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 6534,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005120.3",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374080.8",
"protein_coding": true,
"protein_id": "NP_005111.2",
"strand": true,
"transcript": "NM_005120.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2177,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6925,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 6534,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374080.8",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005120.3",
"protein_coding": true,
"protein_id": "ENSP00000363193.3",
"strand": true,
"transcript": "ENST00000374080.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2180,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6901,
"cdna_start": 4237,
"cds_end": null,
"cds_length": 6543,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374102.6",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363215.2",
"strand": true,
"transcript": "ENST00000374102.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2191,
"aa_ref": "P",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6923,
"cdna_start": 4271,
"cds_end": null,
"cds_length": 6576,
"cds_start": 4153,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938012.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4153_4155delCCTinsTCC",
"hgvs_p": "p.Pro1385Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608071.1",
"strand": true,
"transcript": "ENST00000938012.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 4141,
"cds_end": null,
"cds_length": 6540,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690145.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508818.1",
"strand": true,
"transcript": "ENST00000690145.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2178,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6806,
"cdna_start": 4148,
"cds_end": null,
"cds_length": 6537,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938013.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608072.1",
"strand": true,
"transcript": "ENST00000938013.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2176,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8628,
"cdna_start": 4323,
"cds_end": null,
"cds_length": 6531,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000692304.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508427.1",
"strand": true,
"transcript": "ENST00000692304.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2155,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6912,
"cdna_start": 4323,
"cds_end": null,
"cds_length": 6468,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690242.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510090.1",
"strand": true,
"transcript": "ENST00000690242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2152,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6764,
"cdna_start": 4310,
"cds_end": null,
"cds_length": 6459,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687382.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510724.1",
"strand": true,
"transcript": "ENST00000687382.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2137,
"aa_ref": "P",
"aa_start": 1331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6797,
"cdna_start": 4150,
"cds_end": null,
"cds_length": 6414,
"cds_start": 3991,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000333646.11",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.3991_3993delCCTinsTCC",
"hgvs_p": "p.Pro1331Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333125.8",
"strand": true,
"transcript": "ENST00000333646.11",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1903,
"aa_ref": "P",
"aa_start": 1359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5764,
"cdna_start": 4127,
"cds_end": null,
"cds_length": 5712,
"cds_start": 4075,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000693324.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4075_4077delCCTinsTCC",
"hgvs_p": "p.Pro1359Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508643.1",
"strand": true,
"transcript": "ENST00000693324.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1898,
"aa_ref": "P",
"aa_start": 1354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5726,
"cdna_start": 4089,
"cds_end": null,
"cds_length": 5697,
"cds_start": 4060,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691468.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4060_4062delCCTinsTCC",
"hgvs_p": "p.Pro1354Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509011.1",
"strand": true,
"transcript": "ENST00000691468.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1494,
"aa_ref": "P",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 4485,
"cds_start": 2056,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000693391.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.2056_2058delCCTinsTCC",
"hgvs_p": "p.Pro686Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509563.1",
"strand": true,
"transcript": "ENST00000693391.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2130,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7312,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 6393,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442699.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298655.1",
"strand": true,
"transcript": "XM_047442699.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2128,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7306,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 6387,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442700.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298656.1",
"strand": true,
"transcript": "XM_047442700.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2127,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7303,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 6384,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442701.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298657.1",
"strand": true,
"transcript": "XM_047442701.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 2125,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7297,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 6378,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442702.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298658.1",
"strand": true,
"transcript": "XM_047442702.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2103,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7231,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 6312,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442703.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298659.1",
"strand": true,
"transcript": "XM_047442703.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2100,
"aa_ref": "P",
"aa_start": 1371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7222,
"cdna_start": 4270,
"cds_end": null,
"cds_length": 6303,
"cds_start": 4111,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047442704.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.4111_4113delCCTinsTCC",
"hgvs_p": "p.Pro1371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298660.1",
"strand": true,
"transcript": "XM_047442704.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": null,
"cds_end": null,
"cds_length": 1068,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690690.1",
"gene_hgnc_id": 11957,
"gene_symbol": "MED12",
"hgvs_c": "c.571-460_571-458delCCTinsTCC",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510183.1",
"strand": true,
"transcript": "ENST00000690690.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
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}