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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: 5-66793009-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=66793009&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 66793009,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001393524.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "NM_001164664.2",
"protein_id": "NP_001158136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2623,
"cds_start": null,
"cds_end": null,
"cds_length": 7872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403625.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164664.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "ENST00000403625.7",
"protein_id": "ENSP00000385727.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2623,
"cds_start": null,
"cds_end": null,
"cds_length": 7872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164664.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403625.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "ENST00000406374.5",
"protein_id": "ENSP00000385088.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406374.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "ENST00000406039.5",
"protein_id": "ENSP00000384547.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406039.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "NM_001393524.1",
"protein_id": "NP_001380453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2626,
"cds_start": null,
"cds_end": null,
"cds_length": 7881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "NM_001393525.1",
"protein_id": "NP_001380454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2556,
"cds_start": null,
"cds_end": null,
"cds_length": 7671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393525.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "NM_198828.3",
"protein_id": "NP_942123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198828.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "NM_001290228.2",
"protein_id": "NP_001277157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290228.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.258+4215A>G",
"hgvs_p": null,
"transcript": "ENST00000432817.5",
"protein_id": "ENSP00000413573.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432817.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.258+4215A>G",
"hgvs_p": null,
"transcript": "ENST00000452953.5",
"protein_id": "ENSP00000407977.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452953.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.63+4215A>G",
"hgvs_p": null,
"transcript": "ENST00000434115.5",
"protein_id": "ENSP00000396765.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434115.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.12+4215A>G",
"hgvs_p": null,
"transcript": "ENST00000411628.5",
"protein_id": "ENSP00000398417.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411628.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.666+4215A>G",
"hgvs_p": null,
"transcript": "XM_024446044.2",
"protein_id": "XP_024301812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2695,
"cds_start": null,
"cds_end": null,
"cds_length": 8088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446044.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "XM_047417157.1",
"protein_id": "XP_047273113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2635,
"cds_start": null,
"cds_end": null,
"cds_length": 7908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417157.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.642+4215A>G",
"hgvs_p": null,
"transcript": "XM_047417158.1",
"protein_id": "XP_047273114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2568,
"cds_start": null,
"cds_end": null,
"cds_length": 7707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417158.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.306+4215A>G",
"hgvs_p": null,
"transcript": "XM_047417159.1",
"protein_id": "XP_047273115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2511,
"cds_start": null,
"cds_end": null,
"cds_length": 7536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.306+4215A>G",
"hgvs_p": null,
"transcript": "XM_047417160.1",
"protein_id": "XP_047273116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2456,
"cds_start": null,
"cds_end": null,
"cds_length": 7371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417160.1"
}
],
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"dbsnp": "rs1364020",
"frequency_reference_population": 0.04890669,
"hom_count_reference_population": 274,
"allele_count_reference_population": 7448,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0489067,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 7448,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 274,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.406,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001393524.1",
"gene_symbol": "MAST4",
"hgnc_id": 19037,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.642+4215A>G",
"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
}