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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: 11-110237567-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=110237567&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 110237567,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000645495.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "NM_002906.4",
"protein_id": "NP_002897.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 583,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": "ENST00000645495.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "ENST00000645495.2",
"protein_id": "ENSP00000496503.2",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 583,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": "NM_002906.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "ENST00000528498.5",
"protein_id": "ENSP00000432112.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 604,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.135G>A",
"hgvs_p": "p.Glu45Glu",
"transcript": "ENST00000528900.5",
"protein_id": "ENSP00000433580.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 257,
"cds_start": 135,
"cds_end": null,
"cds_length": 774,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 1814,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "n.291G>A",
"hgvs_p": null,
"transcript": "ENST00000532461.5",
"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": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.405-5563G>A",
"hgvs_p": null,
"transcript": "ENST00000530301.5",
"protein_id": "ENSP00000436277.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1362G>A",
"hgvs_p": "p.Glu454Glu",
"transcript": "NM_001440509.1",
"protein_id": "NP_001427438.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 645,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "NM_001260492.2",
"protein_id": "NP_001247421.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 604,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "NM_001260493.2",
"protein_id": "NP_001247422.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 604,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "NM_001440505.1",
"protein_id": "NP_001427434.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 604,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "NM_001440506.1",
"protein_id": "NP_001427435.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 604,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "ENST00000647231.1",
"protein_id": "ENSP00000496414.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 604,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Glu381Glu",
"transcript": "NM_001440510.1",
"protein_id": "NP_001427439.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 593,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Glu381Glu",
"transcript": "NM_001440511.1",
"protein_id": "NP_001427440.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 593,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1197G>A",
"hgvs_p": "p.Glu399Glu",
"transcript": "NM_001440512.1",
"protein_id": "NP_001427441.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 590,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "NM_001440507.1",
"protein_id": "NP_001427436.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 583,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1176G>A",
"hgvs_p": "p.Glu392Glu",
"transcript": "NM_001440508.1",
"protein_id": "NP_001427437.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 583,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Glu381Glu",
"transcript": "NM_001440513.1",
"protein_id": "NP_001427442.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 572,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 4316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Glu381Glu",
"transcript": "NM_001440514.1",
"protein_id": "NP_001427443.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 572,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 4754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Glu381Glu",
"transcript": "NM_001440515.1",
"protein_id": "NP_001427444.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 572,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Glu364Glu",
"transcript": "NM_001440516.1",
"protein_id": "NP_001427445.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 555,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.1080G>A",
"hgvs_p": "p.Glu360Glu",
"transcript": "NM_001440517.1",
"protein_id": "NP_001427446.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 551,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RDX",
"gene_hgnc_id": 9944,
"hgvs_c": "c.768G>A",
"hgvs_p": "p.Glu256Glu",
"transcript": "NM_001260494.2",
"protein_id": "NP_001247423.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
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"cds_start": 768,
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}
],
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"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
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{
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"pathogenic_score": 2,
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}