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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: 3-56558847-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=56558847&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 56558847,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001353147.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "NM_001141947.3",
"protein_id": "NP_001135419.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 948,
"cds_start": 13,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394672.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141947.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000394672.8",
"protein_id": "ENSP00000378167.3",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 948,
"cds_start": 13,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001141947.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394672.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "ENST00000326595.11",
"protein_id": "ENSP00000326050.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326595.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "ENST00000326595.11",
"protein_id": "ENSP00000326050.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326595.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "n.13G>A",
"hgvs_p": null,
"transcript": "ENST00000341455.10",
"protein_id": "ENSP00000343840.6",
"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": "nonsense_mediated_decay",
"feature": "ENST00000341455.10"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000932971.1",
"protein_id": "ENSP00000603030.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 959,
"cds_start": 13,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932971.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "NM_001353147.1",
"protein_id": "NP_001340076.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 954,
"cds_start": 13,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353147.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000932966.1",
"protein_id": "ENSP00000603025.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 954,
"cds_start": 13,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932966.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "NM_001353148.1",
"protein_id": "NP_001340077.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 942,
"cds_start": 13,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353148.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000888356.1",
"protein_id": "ENSP00000558415.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 942,
"cds_start": 13,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888356.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "NM_001353149.1",
"protein_id": "NP_001340078.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 941,
"cds_start": 13,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353149.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000888358.1",
"protein_id": "ENSP00000558417.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 941,
"cds_start": 13,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888358.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "NM_001353150.1",
"protein_id": "NP_001340079.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 925,
"cds_start": 13,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353150.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000932968.1",
"protein_id": "ENSP00000603027.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 925,
"cds_start": 13,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932968.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000932967.1",
"protein_id": "ENSP00000603026.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 918,
"cds_start": 13,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932967.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.-61G>A",
"hgvs_p": null,
"transcript": "NM_001353151.1",
"protein_id": "NP_001340080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": null,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "NM_001012506.5",
"protein_id": "NP_001012524.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012506.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.-241G>A",
"hgvs_p": null,
"transcript": "NM_001353152.1",
"protein_id": "NP_001340081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "NM_001353153.1",
"protein_id": "NP_001340082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353153.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "NM_001353154.1",
"protein_id": "NP_001340083.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 905,
"cds_start": 13,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353154.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000888360.1",
"protein_id": "ENSP00000558419.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 905,
"cds_start": 13,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888360.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC66",
"gene_hgnc_id": 27709,
"hgvs_c": "c.13G>A",
"hgvs_p": "p.Asp5Asn",
"transcript": "ENST00000888357.1",
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{
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"verdict": "Uncertain_significance",
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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
}