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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: 17-63704405-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63704405&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63704405,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000336174.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1036C>T",
"hgvs_p": "p.Arg346*",
"transcript": "NM_001003787.4",
"protein_id": "NP_001003787.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 431,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": "ENST00000336174.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1036C>T",
"hgvs_p": "p.Arg346*",
"transcript": "ENST00000336174.12",
"protein_id": "ENSP00000336655.6",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 431,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": "NM_001003787.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.862C>T",
"hgvs_p": "p.Arg288*",
"transcript": "ENST00000375840.9",
"protein_id": "ENSP00000365000.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 373,
"cds_start": 862,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.925C>T",
"hgvs_p": "p.Arg309*",
"transcript": "ENST00000392950.9",
"protein_id": "ENSP00000376677.4",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 348,
"cds_start": 925,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1215,
"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.*950C>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.*474C>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.*950C>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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1012C>T",
"hgvs_p": "p.Arg338*",
"transcript": "NM_001363786.1",
"protein_id": "NP_001350715.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 423,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.1036C>T",
"hgvs_p": "p.Arg346*",
"transcript": "ENST00000638193.1",
"protein_id": "ENSP00000491928.1",
"transcript_support_level": 5,
"aa_start": 346,
"aa_end": null,
"aa_length": 403,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.949C>T",
"hgvs_p": "p.Arg317*",
"transcript": "NM_001363787.1",
"protein_id": "NP_001350716.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 402,
"cds_start": 949,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.949C>T",
"hgvs_p": "p.Arg317*",
"transcript": "ENST00000638708.1",
"protein_id": "ENSP00000491580.1",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 402,
"cds_start": 949,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.925C>T",
"hgvs_p": "p.Arg309*",
"transcript": "NM_001003786.3",
"protein_id": "NP_001003786.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 394,
"cds_start": 925,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.925C>T",
"hgvs_p": "p.Arg309*",
"transcript": "ENST00000639835.1",
"protein_id": "ENSP00000492578.1",
"transcript_support_level": 2,
"aa_start": 309,
"aa_end": null,
"aa_length": 394,
"cds_start": 925,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.925C>T",
"hgvs_p": "p.Arg309*",
"transcript": "ENST00000640999.1",
"protein_id": "ENSP00000491643.1",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 394,
"cds_start": 925,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.862C>T",
"hgvs_p": "p.Arg288*",
"transcript": "NM_001003788.3",
"protein_id": "NP_001003788.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 373,
"cds_start": 862,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.862C>T",
"hgvs_p": "p.Arg288*",
"transcript": "ENST00000638702.1",
"protein_id": "ENSP00000491017.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 373,
"cds_start": 862,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.925C>T",
"hgvs_p": "p.Arg309*",
"transcript": "NM_153335.6",
"protein_id": "NP_699166.2",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 348,
"cds_start": 925,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"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.862C>T",
"hgvs_p": "p.Arg288*",
"transcript": "ENST00000640979.1",
"protein_id": "ENSP00000491485.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 345,
"cds_start": 862,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17*",
"transcript": "ENST00000582026.2",
"protein_id": "ENSP00000464213.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 54,
"cds_start": 49,
"cds_end": null,
"cds_length": 165,
"cdna_start": 51,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*789C>T",
"hgvs_p": null,
"transcript": "ENST00000580039.6",
"protein_id": "ENSP00000491249.1",
"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": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.2120C>T",
"hgvs_p": null,
"transcript": "ENST00000583085.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.*168C>T",
"hgvs_p": null,
"transcript": "ENST00000639521.1",
"protein_id": "ENSP00000492087.1",
"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": 952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"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": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "n.967C>T",
"hgvs_p": null,
"transcript": "NR_156741.2",
"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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],
"gene_symbol": "STRADA",
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"dbsnp": "rs748855607",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.5799999833106995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.293,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.2,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000336174.12",
"gene_symbol": "STRADA",
"hgnc_id": 30172,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Arg346*"
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{
"score": 8,
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"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000580553.1",
"gene_symbol": "ENSG00000125695",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*950C>T",
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}
],
"clinvar_disease": " and symptomatic epilepsy, megalencephaly,Polyhydramnios",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Polyhydramnios, megalencephaly, and symptomatic epilepsy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}