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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: 10-96009918-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96009918&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 96009918,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349008.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro",
"transcript": "NM_001349008.3",
"protein_id": "NP_001335937.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3040,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3146,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": "ENST00000646931.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349008.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro",
"transcript": "ENST00000646931.3",
"protein_id": "ENSP00000496666.2",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3040,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3146,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": "NM_001349008.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646931.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.279T>C",
"hgvs_p": null,
"transcript": "ENST00000344386.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000344386.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Ser39Pro",
"transcript": "NM_001159747.2",
"protein_id": "NP_001153219.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 401,
"cds_start": 115,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159747.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Ser39Pro",
"transcript": "NM_001001732.4",
"protein_id": "NP_001001732.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 322,
"cds_start": 115,
"cds_end": null,
"cds_length": 969,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001732.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro",
"transcript": "XM_024447995.2",
"protein_id": "XP_024303763.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3040,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 6165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447995.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3016T>C",
"hgvs_p": "p.Ser1006Pro",
"transcript": "XM_024447996.2",
"protein_id": "XP_024303764.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3016,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 3202,
"cdna_end": null,
"cdna_length": 6213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447996.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro",
"transcript": "XM_024447998.2",
"protein_id": "XP_024303766.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3040,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 3146,
"cdna_end": null,
"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447998.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2911T>C",
"hgvs_p": "p.Ser971Pro",
"transcript": "XM_024447999.2",
"protein_id": "XP_024303767.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1394,
"cds_start": 2911,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447999.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro",
"transcript": "XM_024448001.2",
"protein_id": "XP_024303769.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3040,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 3146,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448001.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro",
"transcript": "XM_024448002.2",
"protein_id": "XP_024303770.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3146,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448002.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro",
"transcript": "XM_024448003.2",
"protein_id": "XP_024303771.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 3146,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448003.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2563T>C",
"hgvs_p": "p.Ser855Pro",
"transcript": "XM_024448004.2",
"protein_id": "XP_024303772.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2669,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448004.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2479T>C",
"hgvs_p": "p.Ser827Pro",
"transcript": "XM_011539789.4",
"protein_id": "XP_011538091.2",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2479,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539789.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2209T>C",
"hgvs_p": "p.Ser737Pro",
"transcript": "XM_047425225.1",
"protein_id": "XP_047281181.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2209,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425225.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro",
"transcript": "XM_024448005.2",
"protein_id": "XP_024303773.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 3146,
"cdna_end": null,
"cdna_length": 5314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448005.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2032T>C",
"hgvs_p": "p.Ser678Pro",
"transcript": "XM_047425226.1",
"protein_id": "XP_047281182.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2032,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425226.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.1918T>C",
"hgvs_p": "p.Ser640Pro",
"transcript": "XM_047425227.1",
"protein_id": "XP_047281183.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1063,
"cds_start": 1918,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.*54T>C",
"hgvs_p": null,
"transcript": "XM_024448006.2",
"protein_id": "XP_024303774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": null,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448006.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2146-2267T>C",
"hgvs_p": null,
"transcript": "ENST00000636965.1",
"protein_id": "ENSP00000490447.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": null,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.326T>C",
"hgvs_p": null,
"transcript": "ENST00000410012.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000410012.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.347T>C",
"hgvs_p": null,
"transcript": "ENST00000424464.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"gene_hgnc_id": 31666,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1538178026676178,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.175,
"phylop100way_prediction": "Benign",
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349008.3",
"gene_symbol": "CC2D2B",
"hgnc_id": 31666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3040T>C",
"hgvs_p": "p.Ser1014Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000416301.5",
"gene_symbol": "ENTPD1-AS1",
"hgnc_id": 45203,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.275+79348A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}