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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: 7-148810334-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148810334&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 148810334,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000320356.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2028T>C",
"hgvs_p": "p.Asn676Asn",
"transcript": "NM_004456.5",
"protein_id": "NP_004447.2",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 751,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": "ENST00000320356.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2028T>C",
"hgvs_p": "p.Asn676Asn",
"transcript": "ENST00000320356.7",
"protein_id": "ENSP00000320147.2",
"transcript_support_level": 1,
"aa_start": 676,
"aa_end": null,
"aa_length": 751,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": "NM_004456.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2013T>C",
"hgvs_p": "p.Asn671Asn",
"transcript": "ENST00000460911.5",
"protein_id": "ENSP00000419711.1",
"transcript_support_level": 1,
"aa_start": 671,
"aa_end": null,
"aa_length": 746,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.1896T>C",
"hgvs_p": "p.Asn632Asn",
"transcript": "ENST00000350995.6",
"protein_id": "ENSP00000223193.2",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2013T>C",
"hgvs_p": "p.Asn671Asn",
"transcript": "NM_001203247.2",
"protein_id": "NP_001190176.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 746,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.1986T>C",
"hgvs_p": "p.Asn662Asn",
"transcript": "NM_001203248.2",
"protein_id": "NP_001190177.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 737,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.1986T>C",
"hgvs_p": "p.Asn662Asn",
"transcript": "ENST00000483967.5",
"protein_id": "ENSP00000419856.1",
"transcript_support_level": 2,
"aa_start": 662,
"aa_end": null,
"aa_length": 737,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.1896T>C",
"hgvs_p": "p.Asn632Asn",
"transcript": "NM_152998.3",
"protein_id": "NP_694543.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 707,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.1860T>C",
"hgvs_p": "p.Asn620Asn",
"transcript": "NM_001203249.2",
"protein_id": "NP_001190178.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 695,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.1860T>C",
"hgvs_p": "p.Asn620Asn",
"transcript": "ENST00000476773.5",
"protein_id": "ENSP00000419050.1",
"transcript_support_level": 2,
"aa_start": 620,
"aa_end": null,
"aa_length": 695,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.1860T>C",
"hgvs_p": "p.Asn620Asn",
"transcript": "ENST00000478654.5",
"protein_id": "ENSP00000417062.1",
"transcript_support_level": 5,
"aa_start": 620,
"aa_end": null,
"aa_length": 695,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Asn684Asn",
"transcript": "XM_011515883.3",
"protein_id": "XP_011514185.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 759,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Asn684Asn",
"transcript": "XM_017011817.3",
"protein_id": "XP_016867306.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 759,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 11911,
"cdna_end": null,
"cdna_length": 12402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Asn684Asn",
"transcript": "XM_047419989.1",
"protein_id": "XP_047275945.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 759,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Asn679Asn",
"transcript": "XM_005249962.5",
"protein_id": "XP_005250019.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 754,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2037T>C",
"hgvs_p": "p.Asn679Asn",
"transcript": "XM_047419990.1",
"protein_id": "XP_047275946.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 754,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2028T>C",
"hgvs_p": "p.Asn676Asn",
"transcript": "XM_047419991.1",
"protein_id": "XP_047275947.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 751,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2025T>C",
"hgvs_p": "p.Asn675Asn",
"transcript": "XM_011515885.3",
"protein_id": "XP_011514187.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 750,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 11884,
"cdna_end": null,
"cdna_length": 12375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2013T>C",
"hgvs_p": "p.Asn671Asn",
"transcript": "XM_047419992.1",
"protein_id": "XP_047275948.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 746,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Asn670Asn",
"transcript": "XM_005249963.5",
"protein_id": "XP_005250020.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 745,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 11869,
"cdna_end": null,
"cdna_length": 12360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Asn670Asn",
"transcript": "XM_047419993.1",
"protein_id": "XP_047275949.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 745,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Asn670Asn",
"transcript": "XM_047419994.1",
"protein_id": "XP_047275950.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
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],
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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{
"score": -19,
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"BP7",
"BS1",
"BS2"
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"verdict": "Benign",
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|not provided|Weaver syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}