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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: 1-196828162-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196828162&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196828162,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002113.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Glu175Gln",
"transcript": "NM_002113.3",
"protein_id": "NP_002104.2",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 330,
"cds_start": 523,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320493.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002113.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Glu175Gln",
"transcript": "ENST00000320493.10",
"protein_id": "ENSP00000314299.5",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 330,
"cds_start": 523,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002113.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320493.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Glu166Gln",
"transcript": "ENST00000887404.1",
"protein_id": "ENSP00000557463.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 321,
"cds_start": 496,
"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": "ENST00000887404.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Glu166Gln",
"transcript": "ENST00000887414.1",
"protein_id": "ENSP00000557473.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 321,
"cds_start": 496,
"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": "ENST00000887414.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.475G>C",
"hgvs_p": "p.Glu159Gln",
"transcript": "ENST00000887401.1",
"protein_id": "ENSP00000557460.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 314,
"cds_start": 475,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887401.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Glu158Gln",
"transcript": "NM_001379306.1",
"protein_id": "NP_001366235.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 313,
"cds_start": 472,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379306.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Glu158Gln",
"transcript": "ENST00000887400.1",
"protein_id": "ENSP00000557459.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 313,
"cds_start": 472,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887400.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Glu175Gln",
"transcript": "ENST00000887403.1",
"protein_id": "ENSP00000557462.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 307,
"cds_start": 523,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887403.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.448G>C",
"hgvs_p": "p.Glu150Gln",
"transcript": "ENST00000887411.1",
"protein_id": "ENSP00000557470.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 305,
"cds_start": 448,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887411.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.439G>C",
"hgvs_p": "p.Glu147Gln",
"transcript": "ENST00000887417.1",
"protein_id": "ENSP00000557476.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 302,
"cds_start": 439,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887417.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.427G>C",
"hgvs_p": "p.Glu143Gln",
"transcript": "ENST00000887407.1",
"protein_id": "ENSP00000557466.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 298,
"cds_start": 427,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887407.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Glu138Gln",
"transcript": "ENST00000887416.1",
"protein_id": "ENSP00000557475.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 293,
"cds_start": 412,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887416.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Glu121Gln",
"transcript": "NM_001379307.1",
"protein_id": "NP_001366236.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 276,
"cds_start": 361,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379307.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Glu121Gln",
"transcript": "ENST00000699454.1",
"protein_id": "ENSP00000514391.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 276,
"cds_start": 361,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699454.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Glu120Gln",
"transcript": "NM_001379308.1",
"protein_id": "NP_001366237.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 275,
"cds_start": 358,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379308.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.358G>C",
"hgvs_p": "p.Glu120Gln",
"transcript": "ENST00000887402.1",
"protein_id": "ENSP00000557461.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 275,
"cds_start": 358,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887402.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Glu119Gln",
"transcript": "NM_001379309.1",
"protein_id": "NP_001366238.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 274,
"cds_start": 355,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379309.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Glu116Gln",
"transcript": "ENST00000887415.1",
"protein_id": "ENSP00000557474.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 271,
"cds_start": 346,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887415.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.523G>C",
"hgvs_p": "p.Glu175Gln",
"transcript": "ENST00000887408.1",
"protein_id": "ENSP00000557467.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 269,
"cds_start": 523,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887408.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.334G>C",
"hgvs_p": "p.Glu112Gln",
"transcript": "ENST00000887410.1",
"protein_id": "ENSP00000557469.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 267,
"cds_start": 334,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887410.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.328G>C",
"hgvs_p": "p.Glu110Gln",
"transcript": "NM_001379310.1",
"protein_id": "NP_001366239.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 265,
"cds_start": 328,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379310.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFHR1",
"gene_hgnc_id": 4888,
"hgvs_c": "c.328G>C",
"hgvs_p": "p.Glu110Gln",
"transcript": "ENST00000887399.1",
"protein_id": "ENSP00000557458.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 265,
"cds_start": 328,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887399.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
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],
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"bayesdelnoaf_prediction": "Benign",
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"acmg_by_gene": [
{
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"BS2"
],
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}