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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: 15-40853568-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40853568&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40853568,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_181642.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "NM_003710.4",
"protein_id": "NP_003701.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 513,
"cds_start": 683,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000562057.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003710.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000562057.6",
"protein_id": "ENSP00000457076.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 513,
"cds_start": 683,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003710.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562057.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000344051.8",
"protein_id": "ENSP00000342098.4",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 529,
"cds_start": 683,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344051.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Asp236Gly",
"transcript": "ENST00000920945.1",
"protein_id": "ENSP00000591004.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 537,
"cds_start": 707,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920945.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "NM_001386873.1",
"protein_id": "NP_001373802.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 529,
"cds_start": 683,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386873.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "NM_181642.3",
"protein_id": "NP_857593.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 529,
"cds_start": 683,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181642.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000907876.1",
"protein_id": "ENSP00000577935.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 529,
"cds_start": 683,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907876.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000920942.1",
"protein_id": "ENSP00000591001.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 529,
"cds_start": 683,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920942.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Asp236Gly",
"transcript": "ENST00000943729.1",
"protein_id": "ENSP00000613788.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 521,
"cds_start": 707,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943729.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "NM_001032367.2",
"protein_id": "NP_001027539.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 513,
"cds_start": 683,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032367.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000907872.1",
"protein_id": "ENSP00000577931.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 513,
"cds_start": 683,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907872.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000907873.1",
"protein_id": "ENSP00000577932.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 513,
"cds_start": 683,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907873.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000907875.1",
"protein_id": "ENSP00000577934.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 513,
"cds_start": 683,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907875.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000920943.1",
"protein_id": "ENSP00000591002.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 513,
"cds_start": 683,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920943.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000943728.1",
"protein_id": "ENSP00000613787.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 511,
"cds_start": 677,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943728.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Asp208Gly",
"transcript": "ENST00000920941.1",
"protein_id": "ENSP00000591000.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 509,
"cds_start": 623,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920941.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Asp208Gly",
"transcript": "ENST00000943727.1",
"protein_id": "ENSP00000613786.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 509,
"cds_start": 623,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943727.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Asp208Gly",
"transcript": "ENST00000907878.1",
"protein_id": "ENSP00000577937.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 493,
"cds_start": 623,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907878.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Asp208Gly",
"transcript": "ENST00000920944.1",
"protein_id": "ENSP00000591003.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 493,
"cds_start": 623,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920944.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "NM_001386874.1",
"protein_id": "NP_001373803.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 487,
"cds_start": 683,
"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_001386874.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.Asp228Gly",
"transcript": "ENST00000907874.1",
"protein_id": "ENSP00000577933.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 478,
"cds_start": 683,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907874.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINT1",
"gene_hgnc_id": 11246,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Asp188Gly",
"transcript": "ENST00000568580.5",
"protein_id": "ENSP00000458074.1",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 471,
"cds_start": 563,
"cds_end": null,
"cds_length": 1417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568580.5"
},
{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}