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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: 13-48502828-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=48502828&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 48502828,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286830.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "NM_001268.4",
"protein_id": "NP_001259.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344532.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001268.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000344532.8",
"protein_id": "ENSP00000345144.3",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001268.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344532.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314Gln",
"transcript": "ENST00000544904.3",
"protein_id": "ENSP00000443904.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 527,
"cds_start": 941,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544904.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1028G>A",
"hgvs_p": "p.Arg343Gln",
"transcript": "NM_001286830.2",
"protein_id": "NP_001273759.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 556,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286830.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1028G>A",
"hgvs_p": "p.Arg343Gln",
"transcript": "ENST00000430805.6",
"protein_id": "ENSP00000389910.2",
"transcript_support_level": 2,
"aa_start": 343,
"aa_end": null,
"aa_length": 556,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430805.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1025G>A",
"hgvs_p": "p.Arg342Gln",
"transcript": "NM_001352429.2",
"protein_id": "NP_001339358.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 555,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352429.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "NM_001352424.2",
"protein_id": "NP_001339353.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352424.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "NM_001352425.2",
"protein_id": "NP_001339354.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352425.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000874757.1",
"protein_id": "ENSP00000544816.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874757.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000874758.1",
"protein_id": "ENSP00000544817.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874758.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000874759.1",
"protein_id": "ENSP00000544818.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874759.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000874760.1",
"protein_id": "ENSP00000544819.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874760.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000874762.1",
"protein_id": "ENSP00000544821.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874762.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000874763.1",
"protein_id": "ENSP00000544822.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874763.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000929084.1",
"protein_id": "ENSP00000599143.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929084.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000959816.1",
"protein_id": "ENSP00000629875.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959816.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000959817.1",
"protein_id": "ENSP00000629876.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959817.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000959818.1",
"protein_id": "ENSP00000629877.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959818.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000959819.1",
"protein_id": "ENSP00000629878.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959819.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338Gln",
"transcript": "ENST00000959820.1",
"protein_id": "ENSP00000629879.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 551,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959820.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314Gln",
"transcript": "NM_001286831.2",
"protein_id": "NP_001273760.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 527,
"cds_start": 941,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286831.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB2",
"gene_hgnc_id": 1914,
"hgvs_c": "c.941G>A",
"hgvs_p": "p.Arg314Gln",
"transcript": "NM_001352426.2",
"protein_id": "NP_001339355.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 527,
"cds_start": 941,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001286830.2",
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{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}