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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: 9-133444950-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133444950&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133444950,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000355699.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2508T>C",
"hgvs_p": "p.Asp836Asp",
"transcript": "NM_139027.6",
"protein_id": "NP_620596.2",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2508,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "ENST00000355699.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2508T>C",
"hgvs_p": "p.Asp836Asp",
"transcript": "ENST00000355699.7",
"protein_id": "ENSP00000347927.2",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 1371,
"cds_start": 2508,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": "NM_139027.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2508T>C",
"hgvs_p": "p.Asp836Asp",
"transcript": "ENST00000371929.7",
"protein_id": "ENSP00000360997.3",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2508,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2415T>C",
"hgvs_p": "p.Asp805Asp",
"transcript": "ENST00000356589.6",
"protein_id": "ENSP00000348997.2",
"transcript_support_level": 1,
"aa_start": 805,
"aa_end": null,
"aa_length": 1340,
"cds_start": 2415,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 4349,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.1324T>C",
"hgvs_p": null,
"transcript": "ENST00000485925.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"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": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Trp438Arg",
"transcript": "ENST00000371916.5",
"protein_id": "ENSP00000360984.2",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 444,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2056T>C",
"hgvs_p": "p.Trp686Arg",
"transcript": "XM_047422700.1",
"protein_id": "XP_047278656.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 692,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2508T>C",
"hgvs_p": "p.Asp836Asp",
"transcript": "NM_139025.5",
"protein_id": "NP_620594.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2508,
"cds_end": null,
"cds_length": 4284,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2415T>C",
"hgvs_p": "p.Asp805Asp",
"transcript": "NM_139026.6",
"protein_id": "NP_620595.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1340,
"cds_start": 2415,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2496T>C",
"hgvs_p": "p.Asp832Asp",
"transcript": "XM_017014232.2",
"protein_id": "XP_016869721.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1423,
"cds_start": 2496,
"cds_end": null,
"cds_length": 4272,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2583T>C",
"hgvs_p": "p.Asp861Asp",
"transcript": "XM_047422699.1",
"protein_id": "XP_047278655.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1396,
"cds_start": 2583,
"cds_end": null,
"cds_length": 4191,
"cdna_start": 2660,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.2118T>C",
"hgvs_p": "p.Asp706Asp",
"transcript": "XM_017014233.2",
"protein_id": "XP_016869722.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 1297,
"cds_start": 2118,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1524T>C",
"hgvs_p": "p.Asp508Asp",
"transcript": "XM_011518176.4",
"protein_id": "XP_011516478.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1524,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2661,
"cdna_end": null,
"cdna_length": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1518T>C",
"hgvs_p": "p.Asp506Asp",
"transcript": "XM_017014234.2",
"protein_id": "XP_016869723.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 1097,
"cds_start": 1518,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1173T>C",
"hgvs_p": "p.Asp391Asp",
"transcript": "XM_011518178.3",
"protein_id": "XP_011516480.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 982,
"cds_start": 1173,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.1173T>C",
"hgvs_p": "p.Asp391Asp",
"transcript": "XM_011518179.1",
"protein_id": "XP_011516481.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 982,
"cds_start": 1173,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 3303,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.*1046T>C",
"hgvs_p": null,
"transcript": "ENST00000474918.1",
"protein_id": "ENSP00000435305.1",
"transcript_support_level": 5,
"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": 2230,
"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": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.*1340T>C",
"hgvs_p": null,
"transcript": "ENST00000495234.5",
"protein_id": "ENSP00000435274.1",
"transcript_support_level": 5,
"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": 3022,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.1345T>C",
"hgvs_p": null,
"transcript": "NR_024514.3",
"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": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.*1046T>C",
"hgvs_p": null,
"transcript": "ENST00000474918.1",
"protein_id": "ENSP00000435305.1",
"transcript_support_level": 5,
"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": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "n.*1340T>C",
"hgvs_p": null,
"transcript": "ENST00000495234.5",
"protein_id": "ENSP00000435274.1",
"transcript_support_level": 5,
"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": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"hgvs_c": "c.*87T>C",
"hgvs_p": null,
"transcript": "XM_017014235.2",
"protein_id": "XP_016869724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAMTS13",
"gene_hgnc_id": 1366,
"dbsnp": "rs36221472",
"frequency_reference_population": 0.0024295433,
"hom_count_reference_population": 92,
"allele_count_reference_population": 3920,
"gnomad_exomes_af": 0.00131744,
"gnomad_genomes_af": 0.0130991,
"gnomad_exomes_ac": 1925,
"gnomad_genomes_ac": 1995,
"gnomad_exomes_homalt": 50,
"gnomad_genomes_homalt": 42,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00267145037651062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.1769,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.018,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000355699.7",
"gene_symbol": "ADAMTS13",
"hgnc_id": 1366,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2508T>C",
"hgvs_p": "p.Asp836Asp"
}
],
"clinvar_disease": "Upshaw-Schulman syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|Upshaw-Schulman syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}