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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: 17-81511913-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81511913&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81511913,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001614.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "NM_001614.5",
"protein_id": "NP_001605.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": "ENST00000573283.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000573283.7",
"protein_id": "ENSP00000458435.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": "NM_001614.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000575842.5",
"protein_id": "ENSP00000458162.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000615544.5",
"protein_id": "ENSP00000477968.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 1895,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.477A>G",
"hgvs_p": null,
"transcript": "ENST00000574671.6",
"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": 2241,
"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": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.238A>G",
"hgvs_p": null,
"transcript": "ENST00000576209.5",
"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": 1698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "NM_001199954.3",
"protein_id": "NP_001186883.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000570382.2",
"protein_id": "ENSP00000466346.2",
"transcript_support_level": 4,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000571721.6",
"protein_id": "ENSP00000460660.2",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000575087.5",
"protein_id": "ENSP00000459124.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000575659.6",
"protein_id": "ENSP00000459119.2",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000575994.6",
"protein_id": "ENSP00000460464.2",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 1340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000679480.1",
"protein_id": "ENSP00000506201.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.353A>G",
"hgvs_p": "p.Lys118Arg",
"transcript": "ENST00000681052.1",
"protein_id": "ENSP00000505060.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 375,
"cds_start": 353,
"cds_end": null,
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"cdna_start": 439,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "c.326A>G",
"hgvs_p": "p.Lys109Arg",
"transcript": "ENST00000644774.2",
"protein_id": "ENSP00000493648.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 366,
"cds_start": 326,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 1137,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.353A>G",
"hgvs_p": null,
"transcript": "ENST00000572105.7",
"protein_id": "ENSP00000462823.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.477A>G",
"hgvs_p": null,
"transcript": "ENST00000576214.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1993,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.353A>G",
"hgvs_p": null,
"transcript": "ENST00000576544.6",
"protein_id": "ENSP00000461672.1",
"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": 1880,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.406A>G",
"hgvs_p": null,
"transcript": "ENST00000576917.5",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.477A>G",
"hgvs_p": null,
"transcript": "ENST00000679410.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.477A>G",
"hgvs_p": null,
"transcript": "ENST00000679535.1",
"protein_id": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.353A>G",
"hgvs_p": null,
"transcript": "ENST00000679778.1",
"protein_id": "ENSP00000505235.1",
"transcript_support_level": null,
"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": 2185,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTG1",
"gene_hgnc_id": 144,
"hgvs_c": "n.353A>G",
"hgvs_p": null,
"transcript": "ENST00000680227.1",
"protein_id": "ENSP00000506253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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"criteria": [
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"PM5",
"PP3_Moderate"
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"verdict": "Likely_pathogenic",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}