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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: 3-58285126-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58285126&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ABHD6",
"hgnc_id": 21398,
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_020676.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3499999940395355,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001320126.2",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000478253.6",
"protein_coding": true,
"protein_id": "NP_001307055.1",
"strand": true,
"transcript": "NM_001320126.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000478253.6",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001320126.2",
"protein_coding": true,
"protein_id": "ENSP00000420315.1",
"strand": true,
"transcript": "ENST00000478253.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000295962.8",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295962.4",
"strand": true,
"transcript": "ENST00000295962.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 375,
"aa_ref": "N",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1128,
"cds_start": 837,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000972009.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.837C>T",
"hgvs_p": "p.Asn279Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642068.1",
"strand": true,
"transcript": "ENST00000972009.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 338,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1017,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857888.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527947.1",
"strand": true,
"transcript": "ENST00000857888.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 338,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1017,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857889.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527948.1",
"strand": true,
"transcript": "ENST00000857889.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 338,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1017,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857890.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527949.1",
"strand": true,
"transcript": "ENST00000857890.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 338,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1017,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857895.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527954.1",
"strand": true,
"transcript": "ENST00000857895.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 338,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2211,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1017,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857902.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527961.1",
"strand": true,
"transcript": "ENST00000857902.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020676.7",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065727.4",
"strand": true,
"transcript": "NM_020676.7",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857891.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527950.1",
"strand": true,
"transcript": "ENST00000857891.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857893.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527952.1",
"strand": true,
"transcript": "ENST00000857893.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857894.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527953.1",
"strand": true,
"transcript": "ENST00000857894.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000857896.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527955.1",
"strand": true,
"transcript": "ENST00000857896.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857898.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527957.1",
"strand": true,
"transcript": "ENST00000857898.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857899.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527958.1",
"strand": true,
"transcript": "ENST00000857899.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1309,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857900.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527959.1",
"strand": true,
"transcript": "ENST00000857900.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857901.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527960.1",
"strand": true,
"transcript": "ENST00000857901.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1014,
"cds_start": 723,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000972010.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.723C>T",
"hgvs_p": "p.Asn241Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642069.1",
"strand": true,
"transcript": "ENST00000972010.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 322,
"aa_ref": "N",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 957,
"cds_end": null,
"cds_length": 969,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000972008.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Asn226Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642067.1",
"strand": true,
"transcript": "ENST00000972008.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 299,
"aa_ref": "N",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 735,
"cds_end": null,
"cds_length": 900,
"cds_start": 609,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000857892.1",
"gene_hgnc_id": 21398,
"gene_symbol": "ABHD6",
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