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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: 5-177091783-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177091783&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177091783,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_002011.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "NM_213647.3",
"protein_id": "NP_998812.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292408.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213647.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000292408.9",
"protein_id": "ENSP00000292408.4",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_213647.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292408.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000502906.5",
"protein_id": "ENSP00000424960.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502906.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000393637.5",
"protein_id": "ENSP00000377254.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 762,
"cds_start": 702,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393637.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "n.702C>G",
"hgvs_p": null,
"transcript": "ENST00000509511.5",
"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": "retained_intron",
"feature": "ENST00000509511.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.771C>G",
"hgvs_p": "p.Arg257Arg",
"transcript": "ENST00000934151.1",
"protein_id": "ENSP00000604210.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 825,
"cds_start": 771,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934151.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.723C>G",
"hgvs_p": "p.Arg241Arg",
"transcript": "ENST00000885513.1",
"protein_id": "ENSP00000555572.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 809,
"cds_start": 723,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885513.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000934150.1",
"protein_id": "ENSP00000604209.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 807,
"cds_start": 702,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934150.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000961679.1",
"protein_id": "ENSP00000631738.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 807,
"cds_start": 702,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961679.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "NM_001354984.2",
"protein_id": "NP_001341913.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354984.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "NM_002011.5",
"protein_id": "NP_002002.3",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002011.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885509.1",
"protein_id": "ENSP00000555568.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885509.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885515.1",
"protein_id": "ENSP00000555574.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885515.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885516.1",
"protein_id": "ENSP00000555575.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885516.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885523.1",
"protein_id": "ENSP00000555582.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885523.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885524.1",
"protein_id": "ENSP00000555583.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885524.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885525.1",
"protein_id": "ENSP00000555584.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885525.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885527.1",
"protein_id": "ENSP00000555586.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885527.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885528.1",
"protein_id": "ENSP00000555587.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885528.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885529.1",
"protein_id": "ENSP00000555588.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885529.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000885530.1",
"protein_id": "ENSP00000555589.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885530.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.702C>G",
"hgvs_p": "p.Arg234Arg",
"transcript": "ENST00000961680.1",
"protein_id": "ENSP00000631739.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 802,
"cds_start": 702,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961680.1"
},
{
"aa_ref": "R",
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"splice_prediction_selected": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}