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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: 19-40074759-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40074759&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40074759,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001142577.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "NM_001142578.2",
"protein_id": "NP_001136050.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683561.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142578.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000683561.1",
"protein_id": "ENSP00000506741.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142578.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683561.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1707A>G",
"hgvs_p": "p.Glu569Glu",
"transcript": "ENST00000907466.1",
"protein_id": "ENSP00000577525.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 649,
"cds_start": 1707,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907466.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1686A>G",
"hgvs_p": "p.Glu562Glu",
"transcript": "NM_001142577.2",
"protein_id": "NP_001136049.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 642,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142577.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1686A>G",
"hgvs_p": "p.Glu562Glu",
"transcript": "ENST00000455521.5",
"protein_id": "ENSP00000400997.1",
"transcript_support_level": 5,
"aa_start": 562,
"aa_end": null,
"aa_length": 642,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455521.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1686A>G",
"hgvs_p": "p.Glu562Glu",
"transcript": "ENST00000594395.5",
"protein_id": "ENSP00000469786.1",
"transcript_support_level": 2,
"aa_start": 562,
"aa_end": null,
"aa_length": 642,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594395.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1686A>G",
"hgvs_p": "p.Glu562Glu",
"transcript": "ENST00000907464.1",
"protein_id": "ENSP00000577523.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 642,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907464.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1686A>G",
"hgvs_p": "p.Glu562Glu",
"transcript": "ENST00000907467.1",
"protein_id": "ENSP00000577526.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 642,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907467.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1686A>G",
"hgvs_p": "p.Glu562Glu",
"transcript": "ENST00000937715.1",
"protein_id": "ENSP00000607774.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 642,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937715.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "NM_001010880.3",
"protein_id": "NP_001010880.2",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010880.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000340963.9",
"protein_id": "ENSP00000341507.5",
"transcript_support_level": 2,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340963.9"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000595687.6",
"protein_id": "ENSP00000472189.1",
"transcript_support_level": 2,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595687.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000907463.1",
"protein_id": "ENSP00000577522.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907463.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000907465.1",
"protein_id": "ENSP00000577524.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907465.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000937711.1",
"protein_id": "ENSP00000607770.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937711.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000937712.1",
"protein_id": "ENSP00000607771.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937712.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000937713.1",
"protein_id": "ENSP00000607772.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937713.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000937714.1",
"protein_id": "ENSP00000607773.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937714.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000970365.1",
"protein_id": "ENSP00000640424.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970365.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000970366.1",
"protein_id": "ENSP00000640425.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970366.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1683A>G",
"hgvs_p": "p.Glu561Glu",
"transcript": "ENST00000970367.1",
"protein_id": "ENSP00000640426.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 641,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970367.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF780A",
"gene_hgnc_id": 27603,
"hgvs_c": "c.1581A>G",
"hgvs_p": "p.Glu527Glu",
"transcript": "ENST00000450241.6",
"protein_id": "ENSP00000387705.3",
"transcript_support_level": 2,
"aa_start": 527,
"aa_end": null,
"aa_length": 607,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
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"cdna_length": null,
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.78,
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"phylop100way_prediction": "Benign",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001142577.2",
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"effects": [
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{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000595508.1",
"gene_symbol": "ENSG00000269749",
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"effects": [
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],
"inheritance_mode": "",
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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
}