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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: 19-54636796-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54636796&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LILRB1",
"hgnc_id": 6605,
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001081637.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LILRB1-AS1",
"hgnc_id": 53114,
"hgvs_c": "n.200-720C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000456337.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 129,
"alphamissense_prediction": null,
"alphamissense_score": 0.0727,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.037790000438690186,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1877,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001081637.3",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324602.12",
"protein_coding": true,
"protein_id": "NP_001075106.2",
"strand": true,
"transcript": "NM_001081637.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1877,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000324602.12",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001081637.3",
"protein_coding": true,
"protein_id": "ENSP00000315997.7",
"strand": true,
"transcript": "ENST00000324602.12",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1877,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000396315.5",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379608.1",
"strand": true,
"transcript": "ENST00000396315.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 2146,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000396327.7",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379618.3",
"strand": true,
"transcript": "ENST00000396327.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000396332.8",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379623.4",
"strand": true,
"transcript": "ENST00000396332.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 2228,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000396331.5",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1871G>A",
"hgvs_p": "p.Arg624Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379622.1",
"strand": true,
"transcript": "ENST00000396331.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 634,
"aa_ref": "R",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 1823,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1823,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000396317.5",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379610.1",
"strand": true,
"transcript": "ENST00000396317.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2106,
"cds_start": 2024,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000427581.6",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Arg675Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395004.2",
"strand": true,
"transcript": "ENST00000427581.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1907,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000955136.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Arg636Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625195.1",
"strand": true,
"transcript": "ENST00000955136.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1904,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890799.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560858.1",
"strand": true,
"transcript": "ENST00000890799.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1904,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000955144.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625203.1",
"strand": true,
"transcript": "ENST00000955144.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 659,
"aa_ref": "R",
"aa_start": 633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1898,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000955134.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625193.1",
"strand": true,
"transcript": "ENST00000955134.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1877,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001388358.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375287.1",
"strand": true,
"transcript": "NM_001388358.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001081638.4",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001075107.2",
"strand": true,
"transcript": "NM_001081638.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 2072,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001081639.4",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001075108.2",
"strand": true,
"transcript": "NM_001081639.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 2273,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001388355.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375284.1",
"strand": true,
"transcript": "NM_001388355.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001388356.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375285.1",
"strand": true,
"transcript": "NM_001388356.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001388357.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375286.1",
"strand": true,
"transcript": "NM_001388357.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890795.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560854.1",
"strand": true,
"transcript": "ENST00000890795.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890796.1",
"gene_hgnc_id": 6605,
"gene_symbol": "LILRB1",
"hgvs_c": "c.1874G>A",
"hgvs_p": "p.Arg625Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560855.1",
"strand": true,
"transcript": "ENST00000890796.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 625,
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