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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: 19-16395450-ATT-GTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16395450&ref=ATT&alt=GTG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "EPS15L1",
"hgnc_id": 24634,
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001438224.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 910,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 2733,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001258374.3",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000455140.7",
"protein_coding": true,
"protein_id": "NP_001245303.1",
"strand": false,
"transcript": "NM_001258374.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 910,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 2733,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455140.7",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258374.3",
"protein_coding": true,
"protein_id": "ENSP00000393313.1",
"strand": false,
"transcript": "ENST00000455140.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 864,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 2595,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000248070.10",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000248070.5",
"strand": false,
"transcript": "ENST00000248070.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 754,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535753.6",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440103.1",
"strand": false,
"transcript": "ENST00000535753.6",
"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": 3082,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000602022.5",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "n.1807_1809delAATinsCAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000471981.1",
"strand": false,
"transcript": "ENST00000602022.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 928,
"aa_ref": "N",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 1841,
"cds_end": null,
"cds_length": 2787,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945606.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1813_1815delAATinsCAC",
"hgvs_p": "p.Asn605His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615665.1",
"strand": false,
"transcript": "ENST00000945606.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438224.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425153.1",
"strand": false,
"transcript": "NM_001438224.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 2781,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000714540.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519782.1",
"strand": false,
"transcript": "ENST00000714540.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 925,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 2778,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945602.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615661.1",
"strand": false,
"transcript": "ENST00000945602.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 925,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 2778,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945603.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615662.1",
"strand": false,
"transcript": "ENST00000945603.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 923,
"aa_ref": "N",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906756.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1990_1992delAATinsCAC",
"hgvs_p": "p.Asn664His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576815.1",
"strand": false,
"transcript": "ENST00000906756.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 912,
"aa_ref": "N",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 2739,
"cds_start": 1813,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906749.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1813_1815delAATinsCAC",
"hgvs_p": "p.Asn605His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576808.1",
"strand": false,
"transcript": "ENST00000906749.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 911,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3218,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 2736,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945605.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615664.1",
"strand": false,
"transcript": "ENST00000945605.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 900,
"aa_ref": "N",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945608.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1729_1731delAATinsCAC",
"hgvs_p": "p.Asn577His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615667.1",
"strand": false,
"transcript": "ENST00000945608.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 894,
"aa_ref": "N",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906748.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1759_1761delAATinsCAC",
"hgvs_p": "p.Asn587His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576807.1",
"strand": false,
"transcript": "ENST00000906748.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 894,
"aa_ref": "N",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 2685,
"cds_start": 1711,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906755.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1711_1713delAATinsCAC",
"hgvs_p": "p.Asn571His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576814.1",
"strand": false,
"transcript": "ENST00000906755.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 878,
"aa_ref": "N",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 2637,
"cds_start": 1711,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945610.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1711_1713delAATinsCAC",
"hgvs_p": "p.Asn571His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615669.1",
"strand": false,
"transcript": "ENST00000945610.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 864,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 2595,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021235.3",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_067058.1",
"strand": false,
"transcript": "NM_021235.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 862,
"aa_ref": "N",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 2589,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906753.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1807_1809delAATinsCAC",
"hgvs_p": "p.Asn603His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576812.1",
"strand": false,
"transcript": "ENST00000906753.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 855,
"aa_ref": "N",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 2568,
"cds_start": 1642,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945607.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.1642_1644delAATinsCAC",
"hgvs_p": "p.Asn548His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615666.1",
"strand": false,
"transcript": "ENST00000945607.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 848,
"aa_ref": "N",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1573,
"consequences": [
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