← Back to variant description
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: 5-150041939-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150041939&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150041939,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014983.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2700A>C",
"hgvs_p": "p.Glu900Asp",
"transcript": "NM_014983.3",
"protein_id": "NP_055798.3",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2700,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000502717.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014983.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2700A>C",
"hgvs_p": "p.Glu900Asp",
"transcript": "ENST00000502717.6",
"protein_id": "ENSP00000421917.1",
"transcript_support_level": 1,
"aa_start": 900,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2700,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014983.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502717.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.3438A>C",
"hgvs_p": "p.Glu1146Asp",
"transcript": "ENST00000613459.4",
"protein_id": "ENSP00000479027.1",
"transcript_support_level": 5,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1538,
"cds_start": 3438,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613459.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2787A>C",
"hgvs_p": "p.Glu929Asp",
"transcript": "ENST00000971018.1",
"protein_id": "ENSP00000641077.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1321,
"cds_start": 2787,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971018.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2721A>C",
"hgvs_p": "p.Glu907Asp",
"transcript": "ENST00000880047.1",
"protein_id": "ENSP00000550106.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2721,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880047.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2700A>C",
"hgvs_p": "p.Glu900Asp",
"transcript": "ENST00000971015.1",
"protein_id": "ENSP00000641074.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1298,
"cds_start": 2700,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971015.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2697A>C",
"hgvs_p": "p.Glu899Asp",
"transcript": "ENST00000880046.1",
"protein_id": "ENSP00000550105.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 1291,
"cds_start": 2697,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880046.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2604A>C",
"hgvs_p": "p.Glu868Asp",
"transcript": "ENST00000503427.5",
"protein_id": "ENSP00000422231.1",
"transcript_support_level": 5,
"aa_start": 868,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2604,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503427.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2601A>C",
"hgvs_p": "p.Glu867Asp",
"transcript": "ENST00000971014.1",
"protein_id": "ENSP00000641073.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1259,
"cds_start": 2601,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971014.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2550A>C",
"hgvs_p": "p.Glu850Asp",
"transcript": "ENST00000971017.1",
"protein_id": "ENSP00000641076.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2550,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971017.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2547A>C",
"hgvs_p": "p.Glu849Asp",
"transcript": "ENST00000971019.1",
"protein_id": "ENSP00000641078.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2547,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971019.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2700A>C",
"hgvs_p": "p.Glu900Asp",
"transcript": "ENST00000971016.1",
"protein_id": "ENSP00000641075.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2700,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971016.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2463A>C",
"hgvs_p": "p.Glu821Asp",
"transcript": "ENST00000971020.1",
"protein_id": "ENSP00000641079.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2463,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971020.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2457A>C",
"hgvs_p": "p.Glu819Asp",
"transcript": "ENST00000880044.1",
"protein_id": "ENSP00000550103.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2457,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880044.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2202A>C",
"hgvs_p": "p.Glu734Asp",
"transcript": "NM_001366501.2",
"protein_id": "NP_001353430.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2202,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366501.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2202A>C",
"hgvs_p": "p.Glu734Asp",
"transcript": "ENST00000933326.1",
"protein_id": "ENSP00000603385.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2202,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933326.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2103A>C",
"hgvs_p": "p.Glu701Asp",
"transcript": "ENST00000880045.1",
"protein_id": "ENSP00000550104.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2103,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880045.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "c.2007A>C",
"hgvs_p": "p.Glu669Asp",
"transcript": "ENST00000880048.1",
"protein_id": "ENSP00000550107.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2007,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "n.*254A>C",
"hgvs_p": null,
"transcript": "ENST00000514469.1",
"protein_id": "ENSP00000426631.1",
"transcript_support_level": 5,
"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": "ENST00000514469.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"hgvs_c": "n.*254A>C",
"hgvs_p": null,
"transcript": "ENST00000514469.1",
"protein_id": "ENSP00000426631.1",
"transcript_support_level": 5,
"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": "ENST00000514469.1"
}
],
"gene_symbol": "HMGXB3",
"gene_hgnc_id": 28982,
"dbsnp": "rs2276982",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.053698718547821045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.1844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014983.3",
"gene_symbol": "HMGXB3",
"hgnc_id": 28982,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2700A>C",
"hgvs_p": "p.Glu900Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}