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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: 16-56484848-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56484848&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56484848,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_031885.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>A",
"hgvs_p": "p.Gln693Gln",
"transcript": "NM_031885.5",
"protein_id": "NP_114091.4",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245157.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031885.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>A",
"hgvs_p": "p.Gln693Gln",
"transcript": "ENST00000245157.11",
"protein_id": "ENSP00000245157.5",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031885.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245157.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "n.5610G>A",
"hgvs_p": null,
"transcript": "ENST00000565781.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565781.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288725",
"gene_hgnc_id": null,
"hgvs_c": "n.999G>A",
"hgvs_p": null,
"transcript": "ENST00000684388.1",
"protein_id": "ENSP00000507647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684388.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2124G>A",
"hgvs_p": "p.Gln708Gln",
"transcript": "ENST00000682188.1",
"protein_id": "ENSP00000507655.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 736,
"cds_start": 2124,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682188.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>A",
"hgvs_p": "p.Gln693Gln",
"transcript": "NM_001377456.1",
"protein_id": "NP_001364385.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377456.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>A",
"hgvs_p": "p.Gln693Gln",
"transcript": "ENST00000682047.1",
"protein_id": "ENSP00000507699.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682047.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>A",
"hgvs_p": "p.Gln693Gln",
"transcript": "ENST00000682205.1",
"protein_id": "ENSP00000508377.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682205.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>A",
"hgvs_p": "p.Gln693Gln",
"transcript": "ENST00000682470.1",
"protein_id": "ENSP00000507654.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682470.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>A",
"hgvs_p": "p.Gln693Gln",
"transcript": "ENST00000682855.1",
"protein_id": "ENSP00000507027.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682855.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2079G>A",
"hgvs_p": "p.Gln693Gln",
"transcript": "ENST00000854960.1",
"protein_id": "ENSP00000525019.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 721,
"cds_start": 2079,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854960.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2067G>A",
"hgvs_p": "p.Gln689Gln",
"transcript": "ENST00000966325.1",
"protein_id": "ENSP00000636384.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 717,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966325.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2046G>A",
"hgvs_p": "p.Gln682Gln",
"transcript": "ENST00000854962.1",
"protein_id": "ENSP00000525021.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 710,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854962.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2043G>A",
"hgvs_p": "p.Gln681Gln",
"transcript": "ENST00000854961.1",
"protein_id": "ENSP00000525020.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 709,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854961.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2031G>A",
"hgvs_p": "p.Gln677Gln",
"transcript": "ENST00000683858.1",
"protein_id": "ENSP00000507657.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 705,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683858.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2010G>A",
"hgvs_p": "p.Gln670Gln",
"transcript": "ENST00000923962.1",
"protein_id": "ENSP00000594021.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 698,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923962.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2010G>A",
"hgvs_p": "p.Gln670Gln",
"transcript": "ENST00000923963.1",
"protein_id": "ENSP00000594022.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 698,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923963.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.2004G>A",
"hgvs_p": "p.Gln668Gln",
"transcript": "ENST00000682930.1",
"protein_id": "ENSP00000507981.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 696,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682930.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1974G>A",
"hgvs_p": "p.Gln658Gln",
"transcript": "ENST00000684635.1",
"protein_id": "ENSP00000507335.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 686,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684635.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1974G>A",
"hgvs_p": "p.Gln658Gln",
"transcript": "ENST00000966324.1",
"protein_id": "ENSP00000636383.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 686,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966324.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1953G>A",
"hgvs_p": "p.Gln651Gln",
"transcript": "ENST00000682482.1",
"protein_id": "ENSP00000507903.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 679,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682482.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBS2",
"gene_hgnc_id": 967,
"hgvs_c": "c.1941G>A",
"hgvs_p": "p.Gln647Gln",
"transcript": "ENST00000568104.6",
"protein_id": "ENSP00000456289.1",
"transcript_support_level": 5,
"aa_start": 647,
"aa_end": null,
"aa_length": 675,
"cds_start": 1941,
"cds_end": null,
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],
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}
],
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}