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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: 15-77032393-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77032393&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 77032393,
"ref": "C",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000558012.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.76C>G",
"hgvs_p": "p.Arg26Gly",
"transcript": "ENST00000558870.1",
"protein_id": "ENSP00000452779.1",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 132,
"cds_start": 76,
"cds_end": null,
"cds_length": 399,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.837C>G",
"hgvs_p": "p.Pro279Pro",
"transcript": "NM_003978.5",
"protein_id": "NP_003969.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 416,
"cds_start": 837,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": "ENST00000558012.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.837C>G",
"hgvs_p": "p.Pro279Pro",
"transcript": "ENST00000558012.6",
"protein_id": "ENSP00000452746.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 416,
"cds_start": 837,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": "NM_003978.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.837C>G",
"hgvs_p": "p.Pro279Pro",
"transcript": "ENST00000559295.5",
"protein_id": "ENSP00000452743.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 397,
"cds_start": 837,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.1032C>G",
"hgvs_p": null,
"transcript": "ENST00000559785.5",
"protein_id": "ENSP00000452986.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.*939C>G",
"hgvs_p": null,
"transcript": "ENST00000560223.5",
"protein_id": "ENSP00000454118.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "n.*939C>G",
"hgvs_p": null,
"transcript": "ENST00000560223.5",
"protein_id": "ENSP00000454118.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.1032C>G",
"hgvs_p": "p.Pro344Pro",
"transcript": "NM_001321137.1",
"protein_id": "NP_001308066.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 481,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.837C>G",
"hgvs_p": "p.Pro279Pro",
"transcript": "NM_001411086.1",
"protein_id": "NP_001398015.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 413,
"cds_start": 837,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.837C>G",
"hgvs_p": "p.Pro279Pro",
"transcript": "ENST00000379595.7",
"protein_id": "ENSP00000368914.3",
"transcript_support_level": 5,
"aa_start": 279,
"aa_end": null,
"aa_length": 413,
"cds_start": 837,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.810C>G",
"hgvs_p": "p.Pro270Pro",
"transcript": "NM_001321136.2",
"protein_id": "NP_001308065.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 407,
"cds_start": 810,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.837C>G",
"hgvs_p": "p.Pro279Pro",
"transcript": "NM_001321135.2",
"protein_id": "NP_001308064.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 397,
"cds_start": 837,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.756C>G",
"hgvs_p": "p.Pro252Pro",
"transcript": "ENST00000559856.1",
"protein_id": "ENSP00000453382.1",
"transcript_support_level": 3,
"aa_start": 252,
"aa_end": null,
"aa_length": 251,
"cds_start": 756,
"cds_end": null,
"cds_length": 756,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.894C>G",
"hgvs_p": "p.Pro298Pro",
"transcript": "XM_011522168.4",
"protein_id": "XP_011520470.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 435,
"cds_start": 894,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.894C>G",
"hgvs_p": "p.Pro298Pro",
"transcript": "XM_011522163.3",
"protein_id": "XP_011520465.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 432,
"cds_start": 894,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.894C>G",
"hgvs_p": "p.Pro298Pro",
"transcript": "XM_047433276.1",
"protein_id": "XP_047289232.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 371,
"cds_start": 894,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.690C>G",
"hgvs_p": "p.Pro230Pro",
"transcript": "XM_011522165.3",
"protein_id": "XP_011520467.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 367,
"cds_start": 690,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.894C>G",
"hgvs_p": "p.Pro298Pro",
"transcript": "XM_011522166.2",
"protein_id": "XP_011520468.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 358,
"cds_start": 894,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.837C>G",
"hgvs_p": "p.Pro279Pro",
"transcript": "XM_047433277.1",
"protein_id": "XP_047289233.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 352,
"cds_start": 837,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.633C>G",
"hgvs_p": "p.Pro211Pro",
"transcript": "XM_047433278.1",
"protein_id": "XP_047289234.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 348,
"cds_start": 633,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.894C>G",
"hgvs_p": "p.Pro298Pro",
"transcript": "XM_047433280.1",
"protein_id": "XP_047289236.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 322,
"cds_start": 894,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSTPIP1",
"gene_hgnc_id": 9580,
"hgvs_c": "c.894C>G",
"hgvs_p": "p.Pro298Pro",
"transcript": "XM_011522167.2",
"protein_id": "XP_011520469.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 319,
"cds_start": 894,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
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"protein_coding": true,
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{
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],
"clinvar_disease": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|Pyogenic arthritis-pyoderma gangrenosum-acne syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}