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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: 13-30461496-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=30461496&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 30461496,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000341423.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "NM_002128.7",
"protein_id": "NP_002119.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": "ENST00000341423.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000341423.10",
"protein_id": "ENSP00000345347.5",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": "NM_002128.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.*82C>G",
"hgvs_p": null,
"transcript": "ENST00000399489.5",
"protein_id": "ENSP00000382412.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "NM_001313892.2",
"protein_id": "NP_001300821.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "NM_001313893.1",
"protein_id": "NP_001300822.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "NM_001370340.1",
"protein_id": "NP_001357269.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 5687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "NM_001370341.1",
"protein_id": "NP_001357270.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 5483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000339872.8",
"protein_id": "ENSP00000343040.4",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000399494.5",
"protein_id": "ENSP00000382417.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000405805.5",
"protein_id": "ENSP00000384678.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "XM_024449341.2",
"protein_id": "XP_024305109.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 215,
"cds_start": 509,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 6038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.*187C>G",
"hgvs_p": null,
"transcript": "ENST00000326004.4",
"protein_id": "ENSP00000369904.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.*82C>G",
"hgvs_p": null,
"transcript": "NM_001363661.2",
"protein_id": "NP_001350590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.*187C>G",
"hgvs_p": null,
"transcript": "NM_001370339.1",
"protein_id": "NP_001357268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5611,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.*187C>G",
"hgvs_p": null,
"transcript": "ENST00000326004.4",
"protein_id": "ENSP00000369904.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.*988C>G",
"hgvs_p": null,
"transcript": "XM_047430284.1",
"protein_id": "XP_047286240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1704,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"hgvs_c": "c.*187C>G",
"hgvs_p": null,
"transcript": "XM_047430285.1",
"protein_id": "XP_047286241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
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"cdna_length": 6193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285840",
"gene_hgnc_id": null,
"hgvs_c": "n.552+15200G>C",
"hgvs_p": null,
"transcript": "ENST00000819189.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285840",
"gene_hgnc_id": null,
"hgvs_c": "n.503+15200G>C",
"hgvs_p": null,
"transcript": "ENST00000819190.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 669,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285840",
"gene_hgnc_id": null,
"hgvs_c": "n.414-1063G>C",
"hgvs_p": null,
"transcript": "ENST00000819191.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "HMGB1",
"gene_hgnc_id": 4983,
"dbsnp": "rs190839668",
"frequency_reference_population": 0.0000035384953,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000035385,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.058672577142715454,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.1226,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.485,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 8,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000341423.10",
"gene_symbol": "HMGB1",
"hgnc_id": 4983,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000819189.1",
"gene_symbol": "ENSG00000285840",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.552+15200G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}