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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: 17-63704449-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63704449&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63704449,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000336174.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Ile",
"transcript": "NM_001003787.4",
"protein_id": "NP_001003787.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 431,
"cds_start": 992,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": "ENST00000336174.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Ile",
"transcript": "ENST00000336174.12",
"protein_id": "ENSP00000336655.6",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 431,
"cds_start": 992,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": "NM_001003787.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Thr273Ile",
"transcript": "ENST00000375840.9",
"protein_id": "ENSP00000365000.4",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 373,
"cds_start": 818,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"transcript": "ENST00000392950.9",
"protein_id": "ENSP00000376677.4",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 348,
"cds_start": 881,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000125695",
"gene_hgnc_id": null,
"hgvs_c": "n.*906C>T",
"hgvs_p": null,
"transcript": "ENST00000580553.1",
"protein_id": "ENSP00000464100.1",
"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": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*430C>T",
"hgvs_p": null,
"transcript": "ENST00000245865.10",
"protein_id": "ENSP00000245865.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000125695",
"gene_hgnc_id": null,
"hgvs_c": "n.*906C>T",
"hgvs_p": null,
"transcript": "ENST00000580553.1",
"protein_id": "ENSP00000464100.1",
"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": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Ile",
"transcript": "NM_001363786.1",
"protein_id": "NP_001350715.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 423,
"cds_start": 968,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Ile",
"transcript": "ENST00000638193.1",
"protein_id": "ENSP00000491928.1",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 403,
"cds_start": 992,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Thr302Ile",
"transcript": "NM_001363787.1",
"protein_id": "NP_001350716.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 402,
"cds_start": 905,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Thr302Ile",
"transcript": "ENST00000638708.1",
"protein_id": "ENSP00000491580.1",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 402,
"cds_start": 905,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"transcript": "NM_001003786.3",
"protein_id": "NP_001003786.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 394,
"cds_start": 881,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"transcript": "ENST00000639835.1",
"protein_id": "ENSP00000492578.1",
"transcript_support_level": 2,
"aa_start": 294,
"aa_end": null,
"aa_length": 394,
"cds_start": 881,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"transcript": "ENST00000640999.1",
"protein_id": "ENSP00000491643.1",
"transcript_support_level": 5,
"aa_start": 294,
"aa_end": null,
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"cds_start": 881,
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"cdna_start": 1268,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Thr273Ile",
"transcript": "NM_001003788.3",
"protein_id": "NP_001003788.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 373,
"cds_start": 818,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Thr273Ile",
"transcript": "ENST00000638702.1",
"protein_id": "ENSP00000491017.1",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 373,
"cds_start": 818,
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"cdna_start": 1075,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Ile",
"transcript": "NM_153335.6",
"protein_id": "NP_699166.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 348,
"cds_start": 881,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Thr273Ile",
"transcript": "ENST00000640979.1",
"protein_id": "ENSP00000491485.1",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 345,
"cds_start": 818,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Ile",
"transcript": "NM_001363788.1",
"protein_id": "NP_001350717.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 343,
"cds_start": 992,
"cds_end": null,
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"cdna_start": 1282,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Thr331Ile",
"transcript": "ENST00000638888.1",
"protein_id": "ENSP00000491528.1",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 343,
"cds_start": 992,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 1084,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Ile",
"transcript": "ENST00000640174.1",
"protein_id": "ENSP00000491380.1",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 324,
"cds_start": 968,
"cds_end": null,
"cds_length": 976,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Thr302Ile",
"transcript": "NM_001165969.2",
"protein_id": "NP_001159441.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 314,
"cds_start": 905,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Thr302Ile",
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
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{
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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{
"score": -2,
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],
"verdict": "Likely_benign",
"transcript": "ENST00000580553.1",
"gene_symbol": "ENSG00000125695",
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"effects": [
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],
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}
],
"clinvar_disease": " and symptomatic epilepsy, megalencephaly,Inborn genetic diseases,Polyhydramnios",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Polyhydramnios, megalencephaly, and symptomatic epilepsy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}