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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: 17-47916948-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47916948&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47916948,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003110.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Ser",
"transcript": "NM_003110.6",
"protein_id": "NP_003101.3",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 613,
"cds_start": 877,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376741.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003110.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Ser",
"transcript": "ENST00000376741.5",
"protein_id": "ENSP00000365931.4",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 613,
"cds_start": 877,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003110.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376741.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Gly278Ser",
"transcript": "ENST00000884863.1",
"protein_id": "ENSP00000554922.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 598,
"cds_start": 832,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884863.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Gly397Ser",
"transcript": "XM_011525136.3",
"protein_id": "XP_011523438.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 771,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525136.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Gly397Ser",
"transcript": "XM_011525137.3",
"protein_id": "XP_011523439.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 768,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525137.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Gly397Ser",
"transcript": "XM_011525138.3",
"protein_id": "XP_011523440.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 760,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525138.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Gly397Ser",
"transcript": "XM_011525140.3",
"protein_id": "XP_011523442.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 717,
"cds_start": 1189,
"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": "XM_011525140.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Ser",
"transcript": "XM_006722023.3",
"protein_id": "XP_006722086.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 667,
"cds_start": 877,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722023.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Ser",
"transcript": "XM_047436569.1",
"protein_id": "XP_047292525.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 664,
"cds_start": 877,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436569.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_006722025.3",
"protein_id": "XP_006722088.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722025.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_006722027.3",
"protein_id": "XP_006722090.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722027.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_011525139.3",
"protein_id": "XP_011523441.2",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525139.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_011525143.2",
"protein_id": "XP_011523445.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525143.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_017024968.2",
"protein_id": "XP_016880457.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024968.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_047436570.1",
"protein_id": "XP_047292526.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436570.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_047436571.1",
"protein_id": "XP_047292527.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436571.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_047436572.1",
"protein_id": "XP_047292528.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436572.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_047436573.1",
"protein_id": "XP_047292529.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 660,
"cds_start": 856,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436573.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_047436575.1",
"protein_id": "XP_047292531.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 657,
"cds_start": 856,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436575.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Ser",
"transcript": "XM_047436576.1",
"protein_id": "XP_047292532.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 656,
"cds_start": 877,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436576.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Gly286Ser",
"transcript": "XM_047436577.1",
"protein_id": "XP_047292533.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 606,
"cds_start": 856,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436577.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.417+460G>A",
"hgvs_p": null,
"transcript": "ENST00000884862.1",
"protein_id": "ENSP00000554921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884862.1"
},
{
"aa_ref": null,
"aa_alt": null,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}