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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: 22-49918866-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=49918866&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 49918866,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001135101.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "NM_024324.5",
"protein_id": "NP_077300.3",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 353,
"cds_start": 97,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328268.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024324.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000328268.9",
"protein_id": "ENSP00000332223.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 353,
"cds_start": 97,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024324.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328268.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000404488.7",
"protein_id": "ENSP00000383938.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 402,
"cds_start": 97,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404488.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000403427.3",
"protein_id": "ENSP00000384111.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 325,
"cds_start": 97,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403427.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000407217.7",
"protein_id": "ENSP00000386034.3",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 321,
"cds_start": 97,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407217.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "n.97C>T",
"hgvs_p": null,
"transcript": "ENST00000482956.5",
"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": "ENST00000482956.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "n.134C>T",
"hgvs_p": null,
"transcript": "ENST00000483652.5",
"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": "ENST00000483652.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000915451.1",
"protein_id": "ENSP00000585510.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 430,
"cds_start": 97,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915451.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000915450.1",
"protein_id": "ENSP00000585509.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 429,
"cds_start": 97,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915450.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905816.1",
"protein_id": "ENSP00000575875.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 403,
"cds_start": 97,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905816.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905819.1",
"protein_id": "ENSP00000575878.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 403,
"cds_start": 97,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905819.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905821.1",
"protein_id": "ENSP00000575880.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 403,
"cds_start": 97,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905821.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "NM_001135101.3",
"protein_id": "NP_001128573.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 402,
"cds_start": 97,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135101.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905820.1",
"protein_id": "ENSP00000575879.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 402,
"cds_start": 97,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905820.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905825.1",
"protein_id": "ENSP00000575884.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 402,
"cds_start": 97,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905825.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000967731.1",
"protein_id": "ENSP00000637790.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 401,
"cds_start": 97,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967731.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905826.1",
"protein_id": "ENSP00000575885.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 399,
"cds_start": 97,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905826.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905829.1",
"protein_id": "ENSP00000575888.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 398,
"cds_start": 97,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905829.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000967735.1",
"protein_id": "ENSP00000637794.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 398,
"cds_start": 97,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967735.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000967734.1",
"protein_id": "ENSP00000637793.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 393,
"cds_start": 97,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967734.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905831.1",
"protein_id": "ENSP00000575890.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 386,
"cds_start": 97,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905831.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRELD2",
"gene_hgnc_id": 28150,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000905828.1",
"protein_id": "ENSP00000575887.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 380,
"cds_start": 97,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905828.1"
},
{
"aa_ref": "R",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001135101.3",
"gene_symbol": "CRELD2",
"hgnc_id": 28150,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}