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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: 1-52904668-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52904668&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ECHDC2",
"hgnc_id": 23408,
"hgvs_c": "c.680T>C",
"hgvs_p": "p.Leu227Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001198961.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 746,
"alphamissense_prediction": null,
"alphamissense_score": 0.9518,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9208751916885376,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 292,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 747,
"cds_end": null,
"cds_length": 879,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001198961.2",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.680T>C",
"hgvs_p": "p.Leu227Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371522.9",
"protein_coding": true,
"protein_id": "NP_001185890.1",
"strand": false,
"transcript": "NM_001198961.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 292,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 747,
"cds_end": null,
"cds_length": 879,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371522.9",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.680T>C",
"hgvs_p": "p.Leu227Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001198961.2",
"protein_coding": true,
"protein_id": "ENSP00000360577.4",
"strand": false,
"transcript": "ENST00000371522.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371520.5",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "n.*891T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000360575.1",
"strand": false,
"transcript": "ENST00000371520.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371520.5",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "n.*891T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000360575.1",
"strand": false,
"transcript": "ENST00000371520.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 333,
"aa_ref": "L",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1322,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1002,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000958445.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.803T>C",
"hgvs_p": "p.Leu268Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628504.1",
"strand": false,
"transcript": "ENST00000958445.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 327,
"aa_ref": "L",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 886,
"cds_end": null,
"cds_length": 984,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000874988.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.785T>C",
"hgvs_p": "p.Leu262Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545047.1",
"strand": false,
"transcript": "ENST00000874988.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 293,
"aa_ref": "L",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 768,
"cds_end": null,
"cds_length": 882,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874990.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545049.1",
"strand": false,
"transcript": "ENST00000874990.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1496,
"cdna_start": 710,
"cds_end": null,
"cds_length": 876,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874986.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.677T>C",
"hgvs_p": "p.Leu226Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545045.1",
"strand": false,
"transcript": "ENST00000874986.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 291,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 762,
"cds_end": null,
"cds_length": 876,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958441.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.677T>C",
"hgvs_p": "p.Leu226Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628500.1",
"strand": false,
"transcript": "ENST00000958441.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 290,
"aa_ref": "L",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 755,
"cds_end": null,
"cds_length": 873,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874981.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.674T>C",
"hgvs_p": "p.Leu225Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545040.1",
"strand": false,
"transcript": "ENST00000874981.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 288,
"aa_ref": "L",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": 803,
"cds_end": null,
"cds_length": 867,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874976.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545035.1",
"strand": false,
"transcript": "ENST00000874976.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 277,
"aa_ref": "L",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1151,
"cdna_start": 713,
"cds_end": null,
"cds_length": 834,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874997.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545056.1",
"strand": false,
"transcript": "ENST00000874997.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 276,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 897,
"cds_end": null,
"cds_length": 831,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874973.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.680T>C",
"hgvs_p": "p.Leu227Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545032.1",
"strand": false,
"transcript": "ENST00000874973.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 275,
"aa_ref": "L",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": 833,
"cds_end": null,
"cds_length": 828,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874977.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.680T>C",
"hgvs_p": "p.Leu227Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545036.1",
"strand": false,
"transcript": "ENST00000874977.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 275,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 742,
"cds_end": null,
"cds_length": 828,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874984.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.677T>C",
"hgvs_p": "p.Leu226Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545043.1",
"strand": false,
"transcript": "ENST00000874984.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 275,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 761,
"cds_end": null,
"cds_length": 828,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958443.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.677T>C",
"hgvs_p": "p.Leu226Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628502.1",
"strand": false,
"transcript": "ENST00000958443.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 274,
"aa_ref": "L",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 727,
"cds_end": null,
"cds_length": 825,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874995.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.674T>C",
"hgvs_p": "p.Leu225Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545054.1",
"strand": false,
"transcript": "ENST00000874995.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 274,
"aa_ref": "L",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 730,
"cds_end": null,
"cds_length": 825,
"cds_start": 677,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000958442.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.677T>C",
"hgvs_p": "p.Leu226Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628501.1",
"strand": false,
"transcript": "ENST00000958442.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 273,
"aa_ref": "L",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1624,
"cdna_start": 838,
"cds_end": null,
"cds_length": 822,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000874974.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.623T>C",
"hgvs_p": "p.Leu208Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545033.1",
"strand": false,
"transcript": "ENST00000874974.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 272,
"aa_ref": "L",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1481,
"cdna_start": 743,
"cds_end": null,
"cds_length": 819,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874982.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Leu223Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545041.1",
"strand": false,
"transcript": "ENST00000874982.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 269,
"aa_ref": "L",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1137,
"cdna_start": 644,
"cds_end": null,
"cds_length": 810,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000929358.1",
"gene_hgnc_id": 23408,
"gene_symbol": "ECHDC2",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Pro",
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}