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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: 14-63389678-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=63389678&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 63389678,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006246.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "NM_006246.5",
"protein_id": "NP_006237.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 467,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337537.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006246.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000337537.8",
"protein_id": "ENSP00000337641.3",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 467,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006246.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337537.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000555899.1",
"protein_id": "ENSP00000452396.1",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 462,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555899.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "n.1394A>G",
"hgvs_p": null,
"transcript": "ENST00000553266.5",
"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": "pseudogene",
"feature": "ENST00000553266.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "NM_001282179.3",
"protein_id": "NP_001269108.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 467,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282179.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000887187.1",
"protein_id": "ENSP00000557246.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 467,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887187.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000887191.1",
"protein_id": "ENSP00000557250.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 467,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887191.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000916234.1",
"protein_id": "ENSP00000586293.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 467,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916234.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000916236.1",
"protein_id": "ENSP00000586295.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 467,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916236.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000916237.1",
"protein_id": "ENSP00000586296.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 467,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916237.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "NM_001282180.3",
"protein_id": "NP_001269109.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 462,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282180.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000887188.1",
"protein_id": "ENSP00000557247.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 462,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887188.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000916238.1",
"protein_id": "ENSP00000586297.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 462,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916238.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000966881.1",
"protein_id": "ENSP00000636940.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 462,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966881.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Gln319Gln",
"transcript": "ENST00000966878.1",
"protein_id": "ENSP00000636937.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 450,
"cds_start": 957,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966878.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.915A>G",
"hgvs_p": "p.Gln305Gln",
"transcript": "ENST00000916233.1",
"protein_id": "ENSP00000586292.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 436,
"cds_start": 915,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916233.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.906A>G",
"hgvs_p": "p.Gln302Gln",
"transcript": "ENST00000916235.1",
"protein_id": "ENSP00000586294.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 433,
"cds_start": 906,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916235.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.1008A>G",
"hgvs_p": "p.Gln336Gln",
"transcript": "ENST00000966879.1",
"protein_id": "ENSP00000636938.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 433,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966879.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.906A>G",
"hgvs_p": "p.Gln302Gln",
"transcript": "ENST00000966880.1",
"protein_id": "ENSP00000636939.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 428,
"cds_start": 906,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966880.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.813A>G",
"hgvs_p": "p.Gln271Gln",
"transcript": "ENST00000887190.1",
"protein_id": "ENSP00000557249.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 402,
"cds_start": 813,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887190.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.780A>G",
"hgvs_p": "p.Gln260Gln",
"transcript": "NM_001282181.3",
"protein_id": "NP_001269110.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 391,
"cds_start": 780,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282181.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R5E",
"gene_hgnc_id": 9313,
"hgvs_c": "c.780A>G",
"hgvs_p": "p.Gln260Gln",
"transcript": "NM_001282182.3",
"protein_id": "NP_001269111.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 391,
"cds_start": 780,
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"cds_length": 1176,
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],
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"acmg_by_gene": [
{
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"criteria": [
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"BP7",
"BS1",
"BS2"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}