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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: 9-136668585-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136668585&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EGFL7",
"hgnc_id": 20594,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_016215.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": 0.0717,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "9",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03363409638404846,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 654,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_016215.5",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308874.12",
"protein_coding": true,
"protein_id": "NP_057299.1",
"strand": true,
"transcript": "NM_016215.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 654,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000308874.12",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016215.5",
"protein_coding": true,
"protein_id": "ENSP00000307843.7",
"strand": true,
"transcript": "ENST00000308874.12",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1282,
"cdna_start": 177,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000371698.3",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360763.3",
"strand": true,
"transcript": "ENST00000371698.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 424,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000406555.7",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385639.3",
"strand": true,
"transcript": "ENST00000406555.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 369,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 181,
"cds_end": null,
"cds_length": 1110,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000917153.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587212.1",
"strand": true,
"transcript": "ENST00000917153.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 201,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_201446.3",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958854.1",
"strand": true,
"transcript": "NM_201446.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000371699.5",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360764.1",
"strand": true,
"transcript": "ENST00000371699.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1339,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893633.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563692.1",
"strand": true,
"transcript": "ENST00000893633.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 596,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893634.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563693.1",
"strand": true,
"transcript": "ENST00000893634.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893635.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563694.1",
"strand": true,
"transcript": "ENST00000893635.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1665,
"cdna_start": 562,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893636.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563695.1",
"strand": true,
"transcript": "ENST00000893636.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 976,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893637.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563696.1",
"strand": true,
"transcript": "ENST00000893637.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893638.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563697.1",
"strand": true,
"transcript": "ENST00000893638.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2078,
"cdna_start": 973,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893639.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563698.1",
"strand": true,
"transcript": "ENST00000893639.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 759,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893640.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563699.1",
"strand": true,
"transcript": "ENST00000893640.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 551,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893641.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563700.1",
"strand": true,
"transcript": "ENST00000893641.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893642.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563701.1",
"strand": true,
"transcript": "ENST00000893642.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 548,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000893643.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563702.1",
"strand": true,
"transcript": "ENST00000893643.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893644.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563703.1",
"strand": true,
"transcript": "ENST00000893644.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 590,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893645.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563704.1",
"strand": true,
"transcript": "ENST00000893645.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 868,
"cds_end": null,
"cds_length": 822,
"cds_start": 109,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893646.1",
"gene_hgnc_id": 20594,
"gene_symbol": "EGFL7",
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Gly37Arg",
"intron_rank": null,
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