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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: 11-64220630-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64220630&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64220630,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_178443.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "NM_031471.6",
"protein_id": "NP_113659.3",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345728.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031471.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "ENST00000345728.10",
"protein_id": "ENSP00000339950.5",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031471.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345728.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.Leu506Leu",
"transcript": "ENST00000279227.10",
"protein_id": "ENSP00000279227.5",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 667,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279227.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1527C>T",
"hgvs_p": "p.Leu509Leu",
"transcript": "ENST00000698865.1",
"protein_id": "ENSP00000513992.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 670,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698865.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1527C>T",
"hgvs_p": "p.Leu509Leu",
"transcript": "ENST00000962569.1",
"protein_id": "ENSP00000632628.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 670,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962569.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.Leu506Leu",
"transcript": "NM_001382362.1",
"protein_id": "NP_001369291.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 667,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382362.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.Leu506Leu",
"transcript": "NM_178443.3",
"protein_id": "NP_848537.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 667,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178443.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.Leu506Leu",
"transcript": "ENST00000698860.1",
"protein_id": "ENSP00000513988.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 667,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698860.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "NM_001382361.1",
"protein_id": "NP_001369290.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382361.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "NM_001382448.1",
"protein_id": "NP_001369377.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382448.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "ENST00000544997.6",
"protein_id": "ENSP00000445778.2",
"transcript_support_level": 3,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544997.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "ENST00000698852.1",
"protein_id": "ENSP00000513984.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698852.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "ENST00000698861.1",
"protein_id": "ENSP00000513989.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698861.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "ENST00000698863.1",
"protein_id": "ENSP00000513991.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698863.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Leu502Leu",
"transcript": "ENST00000698870.1",
"protein_id": "ENSP00000513996.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 663,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698870.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1503C>T",
"hgvs_p": "p.Leu501Leu",
"transcript": "ENST00000962568.1",
"protein_id": "ENSP00000632627.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 662,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962568.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1503C>T",
"hgvs_p": "p.Leu501Leu",
"transcript": "ENST00000962570.1",
"protein_id": "ENSP00000632629.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 662,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962570.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Leu500Leu",
"transcript": "ENST00000698878.1",
"protein_id": "ENSP00000514000.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 661,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698878.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Leu457Leu",
"transcript": "ENST00000698868.1",
"protein_id": "ENSP00000513994.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 618,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698868.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Leu326Leu",
"transcript": "NM_001382364.1",
"protein_id": "NP_001369293.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 487,
"cds_start": 978,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382364.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Leu322Leu",
"transcript": "NM_001382363.1",
"protein_id": "NP_001369292.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 483,
"cds_start": 966,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382363.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.966C>T",
"hgvs_p": "p.Leu322Leu",
"transcript": "ENST00000541252.2",
"protein_id": "ENSP00000438885.2",
"transcript_support_level": 3,
"aa_start": 322,
"aa_end": null,
"aa_length": 483,
"cds_start": 966,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP7",
"BA1"
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],
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Leukocyte adhesion deficiency 3|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}