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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: 10-122572320-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=122572320&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 122572320,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001377530.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "NM_001377530.1",
"protein_id": "NP_001364459.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2542,
"cds_start": 194,
"cds_end": null,
"cds_length": 7629,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": "ENST00000338354.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000338354.10",
"protein_id": "ENSP00000342210.4",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 2542,
"cds_start": 194,
"cds_end": null,
"cds_length": 7629,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": "NM_001377530.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000344338.7",
"protein_id": "ENSP00000343175.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 2403,
"cds_start": 194,
"cds_end": null,
"cds_length": 7212,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000330163.8",
"protein_id": "ENSP00000327747.4",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 1785,
"cds_start": 194,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 5802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000664692.1",
"protein_id": "ENSP00000499397.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2532,
"cds_start": 194,
"cds_end": null,
"cds_length": 7599,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "NM_007329.3",
"protein_id": "NP_015568.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2413,
"cds_start": 194,
"cds_end": null,
"cds_length": 7242,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 7597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000368909.7",
"protein_id": "ENSP00000357905.3",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 2413,
"cds_start": 194,
"cds_end": null,
"cds_length": 7242,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 7686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000619379.1",
"protein_id": "ENSP00000484603.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 2413,
"cds_start": 194,
"cds_end": null,
"cds_length": 7242,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 7686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000652446.2",
"protein_id": "ENSP00000498825.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2413,
"cds_start": 194,
"cds_end": null,
"cds_length": 7242,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 7686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "NM_001320644.2",
"protein_id": "NP_001307573.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2412,
"cds_start": 194,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 7594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000666315.1",
"protein_id": "ENSP00000499304.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2412,
"cds_start": 194,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 7683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "NM_017579.3",
"protein_id": "NP_060049.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2403,
"cds_start": 194,
"cds_end": null,
"cds_length": 7212,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000368955.7",
"protein_id": "ENSP00000357951.3",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 2403,
"cds_start": 194,
"cds_end": null,
"cds_length": 7212,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000653442.1",
"protein_id": "ENSP00000499436.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2393,
"cds_start": 194,
"cds_end": null,
"cds_length": 7182,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "NM_004406.3",
"protein_id": "NP_004397.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1785,
"cds_start": 194,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 5713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000368956.6",
"protein_id": "ENSP00000357952.2",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 1785,
"cds_start": 194,
"cds_end": null,
"cds_length": 5358,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 5802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000664974.1",
"protein_id": "ENSP00000499641.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1527,
"cds_start": 194,
"cds_end": null,
"cds_length": 4584,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000657942.1",
"protein_id": "ENSP00000499391.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 1133,
"cds_start": 194,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"hgvs_c": "n.219C>T",
"hgvs_p": null,
"transcript": "ENST00000667454.1",
"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": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DMBT1",
"gene_hgnc_id": 2926,
"dbsnp": "rs185045706",
"frequency_reference_population": 0.0020493735,
"hom_count_reference_population": 6,
"allele_count_reference_population": 3306,
"gnomad_exomes_af": 0.00206036,
"gnomad_genomes_af": 0.00194394,
"gnomad_exomes_ac": 3010,
"gnomad_genomes_ac": 296,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0054395198822021484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.1092,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.344,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001377530.1",
"gene_symbol": "DMBT1",
"hgnc_id": 2926,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu"
}
],
"clinvar_disease": "DMBT1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "DMBT1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}