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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: 11-72294125-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72294125&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "CLPB",
"hgnc_id": 30664,
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Ala591Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_030813.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000255843",
"hgnc_id": null,
"hgvs_c": "n.88-8487G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000794920.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9302,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "11",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " type VIIB,3-methylglutaconic aciduria",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8512681126594543,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 707,
"aa_ref": "A",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10053,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1772,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_030813.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Ala591Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000294053.9",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_110440.1",
"strand": false,
"transcript": "NM_030813.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 707,
"aa_ref": "A",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10053,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1772,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000294053.9",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Ala591Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_030813.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294053.3",
"strand": false,
"transcript": "ENST00000294053.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 677,
"aa_ref": "A",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9963,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1682,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001258392.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Ala561Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000538039.6",
"protein_coding": true,
"protein_id": "NP_001245321.1",
"strand": false,
"transcript": "NM_001258392.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 677,
"aa_ref": "A",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9963,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1682,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000538039.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Ala561Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258392.3",
"protein_coding": true,
"protein_id": "ENSP00000441518.1",
"strand": false,
"transcript": "ENST00000538039.6",
"transcript_support_level": 2
},
{
"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": 1108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000538021.5",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "n.*471C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445180.2",
"strand": false,
"transcript": "ENST00000538021.5",
"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": 1108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000538021.5",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "n.*471C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445180.2",
"strand": false,
"transcript": "ENST00000538021.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 698,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1745,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000955687.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1745C>T",
"hgvs_p": "p.Ala582Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625746.1",
"strand": false,
"transcript": "ENST00000955687.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 692,
"aa_ref": "A",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1727,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000543042.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Ala576Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439746.2",
"strand": false,
"transcript": "ENST00000543042.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 688,
"aa_ref": "A",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1715,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000955683.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625742.1",
"strand": false,
"transcript": "ENST00000955683.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1712,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866362.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Ala571Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536421.1",
"strand": false,
"transcript": "ENST00000866362.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 687,
"aa_ref": "A",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1712,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866363.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Ala571Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536422.1",
"strand": false,
"transcript": "ENST00000866363.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 676,
"aa_ref": "A",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1679,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000955688.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1679C>T",
"hgvs_p": "p.Ala560Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625747.1",
"strand": false,
"transcript": "ENST00000955688.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 672,
"aa_ref": "A",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1667,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000955686.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1667C>T",
"hgvs_p": "p.Ala556Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625745.1",
"strand": false,
"transcript": "ENST00000955686.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 662,
"aa_ref": "A",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10160,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1637,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001258394.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Ala546Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245323.1",
"strand": false,
"transcript": "NM_001258394.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 651,
"aa_ref": "A",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1604,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000938927.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608986.1",
"strand": false,
"transcript": "ENST00000938927.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "A",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9876,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1595,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001258393.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1595C>T",
"hgvs_p": "p.Ala532Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245322.1",
"strand": false,
"transcript": "NM_001258393.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 648,
"aa_ref": "A",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1595,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000340729.9",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1595C>T",
"hgvs_p": "p.Ala532Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340385.5",
"strand": false,
"transcript": "ENST00000340729.9",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 637,
"aa_ref": "A",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1562,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000955685.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Ala521Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625744.1",
"strand": false,
"transcript": "ENST00000955685.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 634,
"aa_ref": "A",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1553,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000955684.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1553C>T",
"hgvs_p": "p.Ala518Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625743.1",
"strand": false,
"transcript": "ENST00000955684.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 573,
"aa_ref": "A",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1370,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000866364.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
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