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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: 11-93730221-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=93730221&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 93730221,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_033395.2",
"consequences": [
{
"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": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7768-10C>T",
"hgvs_p": null,
"transcript": "NM_033395.2",
"protein_id": "NP_203753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2601,
"cds_start": null,
"cds_end": null,
"cds_length": 7806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325212.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033395.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7768-10C>T",
"hgvs_p": null,
"transcript": "ENST00000325212.11",
"protein_id": "ENSP00000316681.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 2601,
"cds_start": null,
"cds_end": null,
"cds_length": 7806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033395.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325212.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1D",
"gene_hgnc_id": 28759,
"hgvs_c": "n.*672G>A",
"hgvs_p": null,
"transcript": "ENST00000526015.5",
"protein_id": "ENSP00000435087.1",
"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": "ENST00000526015.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1D",
"gene_hgnc_id": 28759,
"hgvs_c": "n.*672G>A",
"hgvs_p": null,
"transcript": "ENST00000526015.5",
"protein_id": "ENSP00000435087.1",
"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": "ENST00000526015.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7882C>T",
"hgvs_p": "p.Pro2628Ser",
"transcript": "XM_011543047.2",
"protein_id": "XP_011541349.1",
"transcript_support_level": null,
"aa_start": 2628,
"aa_end": null,
"aa_length": 2645,
"cds_start": 7882,
"cds_end": null,
"cds_length": 7938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543047.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7879C>T",
"hgvs_p": "p.Pro2627Ser",
"transcript": "XM_017018470.2",
"protein_id": "XP_016873959.1",
"transcript_support_level": null,
"aa_start": 2627,
"aa_end": null,
"aa_length": 2644,
"cds_start": 7879,
"cds_end": null,
"cds_length": 7935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018470.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7843C>T",
"hgvs_p": "p.Pro2615Ser",
"transcript": "XM_011543048.2",
"protein_id": "XP_011541350.1",
"transcript_support_level": null,
"aa_start": 2615,
"aa_end": null,
"aa_length": 2632,
"cds_start": 7843,
"cds_end": null,
"cds_length": 7899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543048.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7840C>T",
"hgvs_p": "p.Pro2614Ser",
"transcript": "XM_047427788.1",
"protein_id": "XP_047283744.1",
"transcript_support_level": null,
"aa_start": 2614,
"aa_end": null,
"aa_length": 2631,
"cds_start": 7840,
"cds_end": null,
"cds_length": 7896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427788.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7738C>T",
"hgvs_p": "p.Pro2580Ser",
"transcript": "XM_011543049.2",
"protein_id": "XP_011541351.1",
"transcript_support_level": null,
"aa_start": 2580,
"aa_end": null,
"aa_length": 2597,
"cds_start": 7738,
"cds_end": null,
"cds_length": 7794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543049.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7735C>T",
"hgvs_p": "p.Pro2579Ser",
"transcript": "XM_017018471.2",
"protein_id": "XP_016873960.1",
"transcript_support_level": null,
"aa_start": 2579,
"aa_end": null,
"aa_length": 2596,
"cds_start": 7735,
"cds_end": null,
"cds_length": 7791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018471.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7699C>T",
"hgvs_p": "p.Pro2567Ser",
"transcript": "XM_047427789.1",
"protein_id": "XP_047283745.1",
"transcript_support_level": null,
"aa_start": 2567,
"aa_end": null,
"aa_length": 2584,
"cds_start": 7699,
"cds_end": null,
"cds_length": 7755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427789.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7696C>T",
"hgvs_p": "p.Pro2566Ser",
"transcript": "XM_047427790.1",
"protein_id": "XP_047283746.1",
"transcript_support_level": null,
"aa_start": 2566,
"aa_end": null,
"aa_length": 2583,
"cds_start": 7696,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427790.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7183C>T",
"hgvs_p": "p.Pro2395Ser",
"transcript": "XM_017018474.3",
"protein_id": "XP_016873963.1",
"transcript_support_level": null,
"aa_start": 2395,
"aa_end": null,
"aa_length": 2412,
"cds_start": 7183,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018474.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7183C>T",
"hgvs_p": "p.Pro2395Ser",
"transcript": "XM_047427794.1",
"protein_id": "XP_047283750.1",
"transcript_support_level": null,
"aa_start": 2395,
"aa_end": null,
"aa_length": 2412,
"cds_start": 7183,
"cds_end": null,
"cds_length": 7239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427794.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.6346C>T",
"hgvs_p": "p.Pro2116Ser",
"transcript": "XM_011543053.3",
"protein_id": "XP_011541355.1",
"transcript_support_level": null,
"aa_start": 2116,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6346,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543053.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.6346C>T",
"hgvs_p": "p.Pro2116Ser",
"transcript": "XM_047427795.1",
"protein_id": "XP_047283751.1",
"transcript_support_level": null,
"aa_start": 2116,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6346,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427795.1"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.2308-10C>T",
"hgvs_p": null,
"transcript": "ENST00000531700.5",
"protein_id": "ENSP00000437323.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": null,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531700.5"
},
{
"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": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7810-10C>T",
"hgvs_p": null,
"transcript": "XM_005274366.2",
"protein_id": "XP_005274423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2615,
"cds_start": null,
"cds_end": null,
"cds_length": 7848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274366.2"
},
{
"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": 30,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7807-10C>T",
"hgvs_p": null,
"transcript": "XM_005274367.3",
"protein_id": "XP_005274424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2614,
"cds_start": null,
"cds_end": null,
"cds_length": 7845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274367.3"
},
{
"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7666-10C>T",
"hgvs_p": null,
"transcript": "XM_017018472.2",
"protein_id": "XP_016873961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2567,
"cds_start": null,
"cds_end": null,
"cds_length": 7704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018472.2"
},
{
"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7663-10C>T",
"hgvs_p": null,
"transcript": "XM_005274368.3",
"protein_id": "XP_005274425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2566,
"cds_start": null,
"cds_end": null,
"cds_length": 7701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274368.3"
},
{
"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": 29,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "CEP295",
"gene_hgnc_id": 29366,
"hgvs_c": "c.7627-10C>T",
"hgvs_p": null,
"transcript": "XM_047427791.1",
"protein_id": "XP_047283747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2554,
"cds_start": null,
"cds_end": null,
"cds_length": 7665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"acmg_score": -10,
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"acmg_by_gene": [
{
"score": -10,
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"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Benign",
"transcript": "NM_033395.2",
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"effects": [
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{
"score": -10,
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"BS2"
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"verdict": "Benign",
"transcript": "ENST00000526015.5",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}