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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: 3-45835653-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45835653&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 45835653,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000296135.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "NM_020347.4",
"protein_id": "NP_065080.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 299,
"cds_start": 260,
"cds_end": null,
"cds_length": 900,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": "ENST00000296135.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "ENST00000296135.11",
"protein_id": "ENSP00000296135.6",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 299,
"cds_start": 260,
"cds_end": null,
"cds_length": 900,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": "NM_020347.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.284T>C",
"hgvs_p": "p.Leu95Pro",
"transcript": "NM_001405920.1",
"protein_id": "NP_001392849.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 284,
"cds_end": null,
"cds_length": 924,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.248T>C",
"hgvs_p": "p.Leu83Pro",
"transcript": "NM_001405921.1",
"protein_id": "NP_001392850.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 295,
"cds_start": 248,
"cds_end": null,
"cds_length": 888,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "NM_001276378.2",
"protein_id": "NP_001263307.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 282,
"cds_start": 209,
"cds_end": null,
"cds_length": 849,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "NM_001386451.1",
"protein_id": "NP_001373380.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 282,
"cds_start": 209,
"cds_end": null,
"cds_length": 849,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "NM_001405922.1",
"protein_id": "NP_001392851.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 282,
"cds_start": 209,
"cds_end": null,
"cds_length": 849,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 4320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "NM_001405923.1",
"protein_id": "NP_001392852.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 282,
"cds_start": 209,
"cds_end": null,
"cds_length": 849,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "ENST00000684620.1",
"protein_id": "ENSP00000506925.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 282,
"cds_start": 209,
"cds_end": null,
"cds_length": 849,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "NM_001405924.1",
"protein_id": "NP_001392853.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 277,
"cds_start": 260,
"cds_end": null,
"cds_length": 834,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.284T>C",
"hgvs_p": "p.Leu95Pro",
"transcript": "NM_001405925.1",
"protein_id": "NP_001392854.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 268,
"cds_start": 284,
"cds_end": null,
"cds_length": 807,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "NM_001386452.1",
"protein_id": "NP_001373381.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 260,
"cds_start": 260,
"cds_end": null,
"cds_length": 783,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.248T>C",
"hgvs_p": "p.Leu83Pro",
"transcript": "NM_001276379.2",
"protein_id": "NP_001263308.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 256,
"cds_start": 248,
"cds_end": null,
"cds_length": 771,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.248T>C",
"hgvs_p": "p.Leu83Pro",
"transcript": "ENST00000539217.5",
"protein_id": "ENSP00000441784.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 256,
"cds_start": 248,
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"cds_length": 771,
"cdna_start": 583,
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"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "NM_001405926.1",
"protein_id": "NP_001392855.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"cds_end": null,
"cds_length": 732,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "NM_001405927.1",
"protein_id": "NP_001392856.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
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"cdna_start": 708,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "NM_001405928.1",
"protein_id": "NP_001392857.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"cds_end": null,
"cds_length": 732,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.131T>C",
"hgvs_p": "p.Leu44Pro",
"transcript": "ENST00000440576.2",
"protein_id": "ENSP00000416083.2",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 234,
"cds_start": 131,
"cds_end": null,
"cds_length": 705,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.209T>C",
"hgvs_p": "p.Leu70Pro",
"transcript": "ENST00000445698.1",
"protein_id": "ENSP00000412240.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 89,
"cds_start": 209,
"cds_end": null,
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"cdna_start": 381,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.437T>C",
"hgvs_p": "p.Leu146Pro",
"transcript": "XM_047448365.1",
"protein_id": "XP_047304321.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 358,
"cds_start": 437,
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"cdna_start": 13257,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.437T>C",
"hgvs_p": "p.Leu146Pro",
"transcript": "XM_047448366.1",
"protein_id": "XP_047304322.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 319,
"cds_start": 437,
"cds_end": null,
"cds_length": 960,
"cdna_start": 13257,
"cdna_end": null,
"cdna_length": 16791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "c.287T>C",
"hgvs_p": "p.Leu96Pro",
"transcript": "XM_017006645.3",
"protein_id": "XP_016862134.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 308,
"cds_start": 287,
"cds_end": null,
"cds_length": 927,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 4260,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTFL1",
"gene_hgnc_id": 6741,
"hgvs_c": "n.273T>C",
"hgvs_p": null,
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"verdict": "Uncertain_significance",
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{
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Bardet-Biedl syndrome 1|Bardet-Biedl syndrome 17",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}