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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: 19-1624008-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1624008&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1624008,
"ref": "A",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000262965.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "NM_003200.5",
"protein_id": "NP_003191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": "ENST00000262965.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "ENST00000262965.12",
"protein_id": "ENSP00000262965.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": "NM_003200.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "NM_001136139.4",
"protein_id": "NP_001129611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": "ENST00000588136.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "ENST00000588136.7",
"protein_id": "ENSP00000468487.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": "NM_001136139.4",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>A",
"hgvs_p": null,
"transcript": "ENST00000453954.6",
"protein_id": "ENSP00000396363.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.347-8T>A",
"hgvs_p": null,
"transcript": "ENST00000395423.7",
"protein_id": "ENSP00000378813.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "NM_001351778.2",
"protein_id": "NP_001338707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "NM_001351779.2",
"protein_id": "NP_001338708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "n.*244-8T>A",
"hgvs_p": null,
"transcript": "ENST00000705032.1",
"protein_id": "ENSP00000516067.1",
"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": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>A",
"hgvs_p": null,
"transcript": "XM_047439258.1",
"protein_id": "XP_047295214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>A",
"hgvs_p": null,
"transcript": "XM_047439259.1",
"protein_id": "XP_047295215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
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"cds_length": 2052,
"cdna_start": null,
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"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>A",
"hgvs_p": null,
"transcript": "XM_047439260.1",
"protein_id": "XP_047295216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>A",
"hgvs_p": null,
"transcript": "XM_047439261.1",
"protein_id": "XP_047295217.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 682,
"cds_start": -4,
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"cds_length": 2049,
"cdna_start": null,
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"cdna_length": 4485,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>A",
"hgvs_p": null,
"transcript": "XM_006722855.5",
"protein_id": "XP_006722918.1",
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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": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>A",
"hgvs_p": null,
"transcript": "XM_017027178.2",
"protein_id": "XP_016882667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"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": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>A",
"hgvs_p": null,
"transcript": "XM_047439262.1",
"protein_id": "XP_047295218.1",
"transcript_support_level": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "XM_017027181.2",
"protein_id": "XP_016882670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "XM_047439263.1",
"protein_id": "XP_047295219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "XM_047439264.1",
"protein_id": "XP_047295220.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "XM_047439265.1",
"protein_id": "XP_047295221.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "XM_047439276.1",
"protein_id": "XP_047295232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>A",
"hgvs_p": null,
"transcript": "XM_047439277.1",
"protein_id": "XP_047295233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
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"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.89,
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"dbscsnv_ada_prediction": "Benign",
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{
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"BP6_Moderate"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}