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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: 19-16361920-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16361920&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16361920,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001438224.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Gln815Gln",
"transcript": "NM_001258374.3",
"protein_id": "NP_001245303.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 910,
"cds_start": 2445,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000455140.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258374.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Gln815Gln",
"transcript": "ENST00000455140.7",
"protein_id": "ENSP00000393313.1",
"transcript_support_level": 2,
"aa_start": 815,
"aa_end": null,
"aa_length": 910,
"cds_start": 2445,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001258374.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455140.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Gln815Gln",
"transcript": "ENST00000248070.10",
"protein_id": "ENSP00000248070.5",
"transcript_support_level": 1,
"aa_start": 815,
"aa_end": null,
"aa_length": 864,
"cds_start": 2445,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248070.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.*47G>A",
"hgvs_p": null,
"transcript": "ENST00000535753.6",
"protein_id": "ENSP00000440103.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": null,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535753.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "n.*47G>A",
"hgvs_p": null,
"transcript": "ENST00000602022.5",
"protein_id": "ENSP00000471981.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000602022.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "n.*47G>A",
"hgvs_p": null,
"transcript": "ENST00000602022.5",
"protein_id": "ENSP00000471981.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000602022.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Ser11Asn",
"transcript": "ENST00000594851.5",
"protein_id": "ENSP00000469495.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 70,
"cds_start": 32,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594851.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2499G>A",
"hgvs_p": "p.Gln833Gln",
"transcript": "ENST00000945606.1",
"protein_id": "ENSP00000615665.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 928,
"cds_start": 2499,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945606.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Gln831Gln",
"transcript": "NM_001438224.1",
"protein_id": "NP_001425153.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 926,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438224.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Gln831Gln",
"transcript": "ENST00000714540.1",
"protein_id": "ENSP00000519782.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 926,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714540.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2490G>A",
"hgvs_p": "p.Gln830Gln",
"transcript": "ENST00000945602.1",
"protein_id": "ENSP00000615661.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 925,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945602.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2490G>A",
"hgvs_p": "p.Gln830Gln",
"transcript": "ENST00000945603.1",
"protein_id": "ENSP00000615662.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 925,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945603.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2484G>A",
"hgvs_p": "p.Gln828Gln",
"transcript": "ENST00000906756.1",
"protein_id": "ENSP00000576815.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 923,
"cds_start": 2484,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906756.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2451G>A",
"hgvs_p": "p.Gln817Gln",
"transcript": "ENST00000906749.1",
"protein_id": "ENSP00000576808.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 912,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906749.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2448G>A",
"hgvs_p": "p.Gln816Gln",
"transcript": "ENST00000945605.1",
"protein_id": "ENSP00000615664.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 911,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945605.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2415G>A",
"hgvs_p": "p.Gln805Gln",
"transcript": "ENST00000945608.1",
"protein_id": "ENSP00000615667.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 900,
"cds_start": 2415,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945608.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2397G>A",
"hgvs_p": "p.Gln799Gln",
"transcript": "ENST00000906748.1",
"protein_id": "ENSP00000576807.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 894,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906748.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2397G>A",
"hgvs_p": "p.Gln799Gln",
"transcript": "ENST00000906755.1",
"protein_id": "ENSP00000576814.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 894,
"cds_start": 2397,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906755.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2349G>A",
"hgvs_p": "p.Gln783Gln",
"transcript": "ENST00000945610.1",
"protein_id": "ENSP00000615669.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 878,
"cds_start": 2349,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945610.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2445G>A",
"hgvs_p": "p.Gln815Gln",
"transcript": "NM_021235.3",
"protein_id": "NP_067058.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 864,
"cds_start": 2445,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021235.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2301G>A",
"hgvs_p": "p.Gln767Gln",
"transcript": "ENST00000906753.1",
"protein_id": "ENSP00000576812.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 862,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906753.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.2280G>A",
"hgvs_p": "p.Gln760Gln",
"transcript": "ENST00000945607.1",
"protein_id": "ENSP00000615666.1",
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"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001438224.1",
"gene_symbol": "EPS15L1",
"hgnc_id": 24634,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Gln831Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}