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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: 17-79101596-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79101596&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 79101596,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001385804.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001350451.2",
"protein_id": "NP_001337380.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": "ENST00000693108.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350451.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "ENST00000693108.1",
"protein_id": "ENSP00000510395.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": "NM_001350451.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693108.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Pro218Ser",
"transcript": "ENST00000857749.1",
"protein_id": "ENSP00000527808.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 391,
"cds_start": 652,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857749.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385804.1",
"protein_id": "NP_001372733.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 373,
"cds_start": 556,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385804.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385805.1",
"protein_id": "NP_001372734.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 373,
"cds_start": 556,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385805.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Pro185Ser",
"transcript": "NM_001385806.1",
"protein_id": "NP_001372735.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 372,
"cds_start": 553,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385806.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385807.1",
"protein_id": "NP_001372736.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385807.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385808.1",
"protein_id": "NP_001372737.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385808.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385809.1",
"protein_id": "NP_001372738.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385809.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385810.1",
"protein_id": "NP_001372739.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385810.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385811.1",
"protein_id": "NP_001372740.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385811.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385812.1",
"protein_id": "NP_001372741.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 3794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385812.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385813.1",
"protein_id": "NP_001372742.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385813.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385814.1",
"protein_id": "NP_001372743.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 3123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385814.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385815.1",
"protein_id": "NP_001372744.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385815.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385816.1",
"protein_id": "NP_001372745.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385816.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385817.1",
"protein_id": "NP_001372746.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385817.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385818.1",
"protein_id": "NP_001372747.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385818.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385819.1",
"protein_id": "NP_001372748.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385819.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385820.1",
"protein_id": "NP_001372749.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385820.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser",
"transcript": "NM_001385821.1",
"protein_id": "NP_001372750.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 359,
"cds_start": 556,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385821.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX3",
"gene_hgnc_id": 27097,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Pro185Ser",
"transcript": "NM_001385822.1",
"protein_id": "NP_001372751.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 358,
"cds_start": 553,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001385804.1",
"gene_symbol": "RBFOX3",
"hgnc_id": 27097,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Pro186Ser"
}
],
"clinvar_disease": "Idiopathic generalized epilepsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Idiopathic generalized epilepsy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}