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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: 14-35549217-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=35549217&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 35549217,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000680220.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.7514G>C",
"hgvs_p": "p.Arg2505Pro",
"transcript": "NM_001346249.2",
"protein_id": "NP_001333178.1",
"transcript_support_level": null,
"aa_start": 2505,
"aa_end": null,
"aa_length": 2542,
"cds_start": 7514,
"cds_end": null,
"cds_length": 7629,
"cdna_start": 7974,
"cdna_end": null,
"cdna_length": 9447,
"mane_select": "ENST00000680220.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.7514G>C",
"hgvs_p": "p.Arg2505Pro",
"transcript": "ENST00000680220.1",
"protein_id": "ENSP00000506280.1",
"transcript_support_level": null,
"aa_start": 2505,
"aa_end": null,
"aa_length": 2542,
"cds_start": 7514,
"cds_end": null,
"cds_length": 7629,
"cdna_start": 7974,
"cdna_end": null,
"cdna_length": 9447,
"mane_select": "NM_001346249.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.5996G>C",
"hgvs_p": "p.Arg1999Pro",
"transcript": "ENST00000307138.10",
"protein_id": "ENSP00000302647.6",
"transcript_support_level": 1,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2083,
"cds_start": 5996,
"cds_end": null,
"cds_length": 6252,
"cdna_start": 6465,
"cdna_end": null,
"cdna_length": 7911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.6035G>C",
"hgvs_p": "p.Arg2012Pro",
"transcript": "ENST00000382366.7",
"protein_id": "ENSP00000371803.3",
"transcript_support_level": 1,
"aa_start": 2012,
"aa_end": null,
"aa_length": 2049,
"cds_start": 6035,
"cds_end": null,
"cds_length": 6150,
"cdna_start": 6134,
"cdna_end": null,
"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.5996G>C",
"hgvs_p": "p.Arg1999Pro",
"transcript": "ENST00000389698.7",
"protein_id": "ENSP00000374348.3",
"transcript_support_level": 1,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2036,
"cds_start": 5996,
"cds_end": null,
"cds_length": 6111,
"cdna_start": 6387,
"cdna_end": null,
"cdna_length": 7864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.7373G>C",
"hgvs_p": "p.Arg2458Pro",
"transcript": "NM_001330075.3",
"protein_id": "NP_001317004.1",
"transcript_support_level": null,
"aa_start": 2458,
"aa_end": null,
"aa_length": 2495,
"cds_start": 7373,
"cds_end": null,
"cds_length": 7488,
"cdna_start": 7833,
"cdna_end": null,
"cdna_length": 9306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.7373G>C",
"hgvs_p": "p.Arg2458Pro",
"transcript": "NM_001346248.2",
"protein_id": "NP_001333177.1",
"transcript_support_level": null,
"aa_start": 2458,
"aa_end": null,
"aa_length": 2495,
"cds_start": 7373,
"cds_end": null,
"cds_length": 7488,
"cdna_start": 7833,
"cdna_end": null,
"cdna_length": 9309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.7373G>C",
"hgvs_p": "p.Arg2458Pro",
"transcript": "ENST00000637992.1",
"protein_id": "ENSP00000490119.1",
"transcript_support_level": 5,
"aa_start": 2458,
"aa_end": null,
"aa_length": 2495,
"cds_start": 7373,
"cds_end": null,
"cds_length": 7488,
"cdna_start": 7752,
"cdna_end": null,
"cdna_length": 8512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.6137G>C",
"hgvs_p": "p.Arg2046Pro",
"transcript": "NM_001346247.2",
"protein_id": "NP_001333176.1",
"transcript_support_level": null,
"aa_start": 2046,
"aa_end": null,
"aa_length": 2131,
"cds_start": 6137,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 6597,
"cdna_end": null,
"cdna_length": 8042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.6137G>C",
"hgvs_p": "p.Arg2046Pro",
"transcript": "ENST00000554259.6",
"protein_id": "ENSP00000451133.2",
"transcript_support_level": 5,
"aa_start": 2046,
"aa_end": null,
"aa_length": 2131,
"cds_start": 6137,
"cds_end": null,
"cds_length": 6396,
"cdna_start": 6573,
"cdna_end": null,
"cdna_length": 8017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.5996G>C",
"hgvs_p": "p.Arg1999Pro",
"transcript": "NM_001346246.2",
"protein_id": "NP_001333175.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2084,
"cds_start": 5996,
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"cds_length": 6255,
"cdna_start": 6456,
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"cdna_length": 7901,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
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"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.6137G>C",
"hgvs_p": "p.Arg2046Pro",
"transcript": "NM_001283044.3",
"protein_id": "NP_001269973.1",
"transcript_support_level": null,
"aa_start": 2046,
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"aa_length": 2083,
"cds_start": 6137,
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"cdna_start": 6597,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.6137G>C",
"hgvs_p": "p.Arg2046Pro",
"transcript": "NM_001346245.2",
"protein_id": "NP_001333174.1",
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"aa_start": 2046,
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"cdna_start": 6597,
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 39,
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"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.5996G>C",
"hgvs_p": "p.Arg1999Pro",
"transcript": "NM_194301.4",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.6137G>C",
"hgvs_p": "p.Arg2046Pro",
"transcript": "ENST00000553892.2",
"protein_id": "ENSP00000451877.1",
"transcript_support_level": 5,
"aa_start": 2046,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
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"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.6035G>C",
"hgvs_p": "p.Arg2012Pro",
"transcript": "NM_001283043.3",
"protein_id": "NP_001269972.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.5996G>C",
"hgvs_p": "p.Arg1999Pro",
"transcript": "NM_001346243.2",
"protein_id": "NP_001333172.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.5996G>C",
"hgvs_p": "p.Arg1999Pro",
"transcript": "NM_014990.3",
"protein_id": "NP_055805.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
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},
{
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],
"exon_rank": 7,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.842G>C",
"hgvs_p": "p.Arg281Pro",
"transcript": "ENST00000554573.5",
"protein_id": "ENSP00000450574.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.7514G>C",
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"transcript": "XM_006720098.4",
"protein_id": "XP_006720161.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.7514G>C",
"hgvs_p": "p.Arg2505Pro",
"transcript": "XM_006720099.4",
"protein_id": "XP_006720162.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA1",
"gene_hgnc_id": 17770,
"hgvs_c": "c.7373G>C",
"hgvs_p": "p.Arg2458Pro",
"transcript": "XM_006720100.5",
"protein_id": "XP_006720163.1",
"transcript_support_level": null,
"aa_start": 2458,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 40,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"BP6"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}