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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: 1-3556364-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3556364&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3556364,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000356575.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "NM_001409.4",
"protein_id": "NP_001400.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1541,
"cds_start": -4,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": "ENST00000356575.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "ENST00000356575.9",
"protein_id": "ENSP00000348982.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1541,
"cds_start": -4,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": "NM_001409.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "n.377-9241A>C",
"hgvs_p": null,
"transcript": "ENST00000485002.6",
"protein_id": "ENSP00000419033.2",
"transcript_support_level": 5,
"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": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.667+23461A>C",
"hgvs_p": null,
"transcript": "XM_011540886.3",
"protein_id": "XP_011539188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": -4,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.667+23461A>C",
"hgvs_p": null,
"transcript": "XM_017000533.3",
"protein_id": "XP_016856022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": -4,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448204.1",
"protein_id": "XP_047304160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448205.1",
"protein_id": "XP_047304161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1498,
"cds_start": -4,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448215.1",
"protein_id": "XP_047304171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1497,
"cds_start": -4,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448217.1",
"protein_id": "XP_047304173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1457,
"cds_start": -4,
"cds_end": null,
"cds_length": 4374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448220.1",
"protein_id": "XP_047304176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1456,
"cds_start": -4,
"cds_end": null,
"cds_length": 4371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448221.1",
"protein_id": "XP_047304177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448228.1",
"protein_id": "XP_047304184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1453,
"cds_start": -4,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448229.1",
"protein_id": "XP_047304185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1413,
"cds_start": -4,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.481+23461A>C",
"hgvs_p": null,
"transcript": "XM_047448232.1",
"protein_id": "XP_047304188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1410,
"cds_start": -4,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.667+23461A>C",
"hgvs_p": null,
"transcript": "XM_011540888.4",
"protein_id": "XP_011539190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1364,
"cds_start": -4,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"dbsnp": "rs878063",
"frequency_reference_population": 0.000006575919,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657592,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.166,
"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": "ENST00000356575.9",
"gene_symbol": "MEGF6",
"hgnc_id": 3232,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.481+23461A>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
}