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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: 21-42271122-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42271122&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ABCG1",
"hgnc_id": 73,
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_004915.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BA1",
"acmg_score": -12,
"allele_count_reference_population": 4115,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "21",
"clinvar_classification": "Benign",
"clinvar_disease": "ABCG1-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 666,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2001,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_016818.3",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398449.8",
"protein_coding": true,
"protein_id": "NP_058198.2",
"strand": true,
"transcript": "NM_016818.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 666,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2001,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000398449.8",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016818.3",
"protein_coding": true,
"protein_id": "ENSP00000381467.3",
"strand": true,
"transcript": "ENST00000398449.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 824,
"aa_ref": "L",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 925,
"cds_end": null,
"cds_length": 2475,
"cds_start": 777,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000398437.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.777G>A",
"hgvs_p": "p.Leu259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381464.1",
"strand": true,
"transcript": "ENST00000398437.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 678,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10179,
"cdna_start": 484,
"cds_end": null,
"cds_length": 2037,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000361802.7",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354995.2",
"strand": true,
"transcript": "ENST00000361802.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "L",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 523,
"cds_end": null,
"cds_length": 2034,
"cds_start": 372,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000343687.7",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Leu124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339744.3",
"strand": true,
"transcript": "ENST00000343687.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 668,
"aa_ref": "L",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 605,
"cds_end": null,
"cds_length": 2007,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000398457.6",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.345G>A",
"hgvs_p": "p.Leu115Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381475.2",
"strand": true,
"transcript": "ENST00000398457.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 663,
"aa_ref": "L",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 409,
"cds_end": null,
"cds_length": 1992,
"cds_start": 330,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000347800.6",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Leu110Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000291524.4",
"strand": true,
"transcript": "ENST00000347800.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000462050.5",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "n.523G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462050.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 702,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2109,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878298.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548357.1",
"strand": true,
"transcript": "ENST00000878298.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 690,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 485,
"cds_end": null,
"cds_length": 2073,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878297.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548356.1",
"strand": true,
"transcript": "ENST00000878297.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 678,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2037,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004915.4",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004906.3",
"strand": true,
"transcript": "NM_004915.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 677,
"aa_ref": "L",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 446,
"cds_end": null,
"cds_length": 2034,
"cds_start": 372,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_207174.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Leu124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997057.1",
"strand": true,
"transcript": "NM_207174.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 668,
"aa_ref": "L",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 605,
"cds_end": null,
"cds_length": 2007,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_207627.2",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.345G>A",
"hgvs_p": "p.Leu115Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997510.1",
"strand": true,
"transcript": "NM_207627.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 663,
"aa_ref": "L",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 409,
"cds_end": null,
"cds_length": 1992,
"cds_start": 330,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_207629.2",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.330G>A",
"hgvs_p": "p.Leu110Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997512.1",
"strand": true,
"transcript": "NM_207629.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 654,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1965,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878300.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548359.1",
"strand": true,
"transcript": "ENST00000878300.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 644,
"aa_ref": "L",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 523,
"cds_end": null,
"cds_length": 1935,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_207628.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Leu91Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997511.1",
"strand": true,
"transcript": "NM_207628.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 613,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1842,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878299.1",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548358.1",
"strand": true,
"transcript": "ENST00000878299.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 256,
"aa_ref": "L",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 918,
"cdna_start": 485,
"cds_end": null,
"cds_length": 772,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000450121.5",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.339G>A",
"hgvs_p": "p.Leu113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414541.1",
"strand": true,
"transcript": "ENST00000450121.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 786,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 678,
"cds_end": null,
"cds_length": 2361,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024452141.2",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.663G>A",
"hgvs_p": "p.Leu221Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307909.1",
"strand": true,
"transcript": "XM_024452141.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 689,
"aa_ref": "L",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 446,
"cds_end": null,
"cds_length": 2070,
"cds_start": 372,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011529806.2",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Leu124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528108.1",
"strand": true,
"transcript": "XM_011529806.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 641,
"aa_ref": "L",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 446,
"cds_end": null,
"cds_length": 1926,
"cds_start": 372,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011529807.4",
"gene_hgnc_id": 73,
"gene_symbol": "ABCG1",
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Leu124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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