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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: 11-86264244-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=86264244&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 86264244,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000263360.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_003797.5",
"protein_id": "NP_003788.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 441,
"cds_start": 707,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": "ENST00000263360.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "ENST00000263360.11",
"protein_id": "ENSP00000263360.6",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 441,
"cds_start": 707,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": "NM_003797.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "ENST00000351625.10",
"protein_id": "ENSP00000338186.5",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 466,
"cds_start": 707,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "ENST00000327320.8",
"protein_id": "ENSP00000315587.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 400,
"cds_start": 707,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.887G>C",
"hgvs_p": "p.Arg296Thr",
"transcript": "ENST00000673233.3",
"protein_id": "ENSP00000500914.2",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 501,
"cds_start": 887,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_001308007.2",
"protein_id": "NP_001294936.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 466,
"cds_start": 707,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "ENST00000672825.1",
"protein_id": "ENSP00000500834.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 441,
"cds_start": 707,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Thr",
"transcript": "NM_001440587.1",
"protein_id": "NP_001427516.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 435,
"cds_start": 614,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_001440588.1",
"protein_id": "NP_001427517.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 428,
"cds_start": 707,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 5347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_001440589.1",
"protein_id": "NP_001427518.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 425,
"cds_start": 707,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.641G>C",
"hgvs_p": "p.Arg214Thr",
"transcript": "NM_001440591.1",
"protein_id": "NP_001427520.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 419,
"cds_start": 641,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_001440592.1",
"protein_id": "NP_001427521.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 413,
"cds_start": 707,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Thr",
"transcript": "NM_001440594.1",
"protein_id": "NP_001427523.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 410,
"cds_start": 614,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_001440595.1",
"protein_id": "NP_001427524.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 409,
"cds_start": 707,
"cds_end": null,
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"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Thr",
"transcript": "ENST00000707108.1",
"protein_id": "ENSP00000516737.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 406,
"cds_start": 602,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_001440586.1",
"protein_id": "NP_001427515.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 400,
"cds_start": 707,
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"cds_length": 1203,
"cdna_start": 1184,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_001440597.1",
"protein_id": "NP_001427526.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 390,
"cds_start": 707,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Thr",
"transcript": "NM_001440598.1",
"protein_id": "NP_001427527.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 384,
"cds_start": 461,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Arg172Thr",
"transcript": "NM_001440599.1",
"protein_id": "NP_001427528.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 377,
"cds_start": 515,
"cds_end": null,
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"cdna_start": 992,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Thr",
"transcript": "NM_001440600.1",
"protein_id": "NP_001427529.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 372,
"cds_start": 614,
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"cds_length": 1119,
"cdna_start": 1091,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "NM_001330334.2",
"protein_id": "NP_001317263.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 361,
"cds_start": 707,
"cds_end": null,
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"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Arg236Thr",
"transcript": "ENST00000528180.5",
"protein_id": "ENSP00000431778.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 361,
"cds_start": 707,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.461G>C",
"hgvs_p": "p.Arg154Thr",
"transcript": "NM_001440601.1",
"protein_id": "NP_001427530.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
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],
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"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 5,
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{
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"PP3",
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Cohen-Gibson syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Cohen-Gibson syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}