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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: 19-16377173-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16377173&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EPS15L1",
"hgnc_id": 24634,
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001438224.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4,BS2",
"acmg_score": -3,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.6983,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4052425026893616,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 910,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001258374.3",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"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": "S",
"aa_end": null,
"aa_length": 910,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000455140.7",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"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": "S",
"aa_end": null,
"aa_length": 864,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000248070.10",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"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": null,
"aa_end": null,
"aa_length": 754,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": null,
"cds_end": null,
"cds_length": 2265,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535753.6",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2247+7956C>T",
"hgvs_p": null,
"intron_rank": 21,
"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": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000602022.5",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "n.2247+7956C>T",
"hgvs_p": null,
"intron_rank": 21,
"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": "S",
"aa_end": null,
"aa_length": 928,
"aa_ref": "P",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 2361,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2335,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000945606.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Pro779Ser",
"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": "S",
"aa_end": null,
"aa_length": 926,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001438224.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"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": "S",
"aa_end": null,
"aa_length": 926,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000714540.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"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": "S",
"aa_end": null,
"aa_length": 925,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000945602.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"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": "S",
"aa_end": null,
"aa_length": 925,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 2362,
"cds_end": null,
"cds_length": 2778,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000945603.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"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": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "P",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2368,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000906756.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2368C>T",
"hgvs_p": "p.Pro790Ser",
"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": "S",
"aa_end": null,
"aa_length": 912,
"aa_ref": "P",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 2363,
"cds_end": null,
"cds_length": 2739,
"cds_start": 2335,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000906749.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2335C>T",
"hgvs_p": "p.Pro779Ser",
"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": "S",
"aa_end": null,
"aa_length": 900,
"aa_ref": "P",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000945608.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2251C>T",
"hgvs_p": "p.Pro751Ser",
"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": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "P",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000906748.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Pro761Ser",
"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": "S",
"aa_end": null,
"aa_length": 894,
"aa_ref": "P",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 2247,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000906755.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2233C>T",
"hgvs_p": "p.Pro745Ser",
"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": "S",
"aa_end": null,
"aa_length": 878,
"aa_ref": "P",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 2247,
"cds_end": null,
"cds_length": 2637,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000945610.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2233C>T",
"hgvs_p": "p.Pro745Ser",
"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": "S",
"aa_end": null,
"aa_length": 864,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2595,
"cds_start": 2329,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_021235.3",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2329C>T",
"hgvs_p": "p.Pro777Ser",
"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": "S",
"aa_end": null,
"aa_length": 862,
"aa_ref": "P",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2185,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000906753.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2185C>T",
"hgvs_p": "p.Pro729Ser",
"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": "S",
"aa_end": null,
"aa_length": 855,
"aa_ref": "P",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2164,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000945607.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2164C>T",
"hgvs_p": "p.Pro722Ser",
"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": "S",
"aa_end": null,
"aa_length": 848,
"aa_ref": "P",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000945604.1",
"gene_hgnc_id": 24634,
"gene_symbol": "EPS15L1",
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Pro699Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615663.1",
"strand": false,
"transcript": "ENST00000945604.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 834,
"aa_ref": "P",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000906747.1",
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