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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: 1-39447679-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39447679&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 39447679,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000564288.6",
"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": 101,
"intron_rank": 81,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.19762-13A>G",
"hgvs_p": null,
"transcript": "NM_001394062.1",
"protein_id": "NP_001380991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7555,
"cds_start": -4,
"cds_end": null,
"cds_length": 22668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "ENST00000564288.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 101,
"intron_rank": 81,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.19762-13A>G",
"hgvs_p": null,
"transcript": "ENST00000564288.6",
"protein_id": "ENSP00000455274.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 7555,
"cds_start": -4,
"cds_end": null,
"cds_length": 22668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "NM_001394062.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 101,
"intron_rank": 81,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.19873-13A>G",
"hgvs_p": null,
"transcript": "ENST00000567887.5",
"protein_id": "ENSP00000455823.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 7592,
"cds_start": -4,
"cds_end": null,
"cds_length": 22779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 24319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 96,
"intron_rank": 79,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.19450-13A>G",
"hgvs_p": null,
"transcript": "ENST00000372915.8",
"protein_id": "ENSP00000362006.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 7385,
"cds_start": -4,
"cds_end": null,
"cds_length": 22158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 23431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 93,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.13585-13A>G",
"hgvs_p": null,
"transcript": "NM_012090.5",
"protein_id": "NP_036222.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5430,
"cds_start": -4,
"cds_end": null,
"cds_length": 16293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 94,
"intron_rank": 77,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.13585-13A>G",
"hgvs_p": null,
"transcript": "ENST00000361689.7",
"protein_id": "ENSP00000354573.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 5430,
"cds_start": -4,
"cds_end": null,
"cds_length": 16293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 93,
"intron_rank": 76,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.13432-13A>G",
"hgvs_p": null,
"transcript": "ENST00000671089.2",
"protein_id": "ENSP00000499399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5379,
"cds_start": -4,
"cds_end": null,
"cds_length": 16140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 71,
"intron_rank": 54,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.10594-13A>G",
"hgvs_p": null,
"transcript": "ENST00000372925.6",
"protein_id": "ENSP00000362016.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4433,
"cds_start": -4,
"cds_end": null,
"cds_length": 13302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.7840-13A>G",
"hgvs_p": null,
"transcript": "NM_001397473.1",
"protein_id": "NP_001384402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3515,
"cds_start": -4,
"cds_end": null,
"cds_length": 10548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4123-13A>G",
"hgvs_p": null,
"transcript": "ENST00000683517.1",
"protein_id": "ENSP00000508231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2276,
"cds_start": -4,
"cds_end": null,
"cds_length": 6831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7104,
"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": 64,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.15222-13A>G",
"hgvs_p": null,
"transcript": "ENST00000289893.8",
"protein_id": null,
"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": 19141,
"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": 39,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.5435-13A>G",
"hgvs_p": null,
"transcript": "ENST00000686067.1",
"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": 8828,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.1744-13A>G",
"hgvs_p": null,
"transcript": "ENST00000686941.1",
"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": 2819,
"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": 37,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.5435-13A>G",
"hgvs_p": null,
"transcript": "ENST00000687997.1",
"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": 8635,
"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": 28,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.1823-13A>G",
"hgvs_p": null,
"transcript": "ENST00000691623.1",
"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": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"dbsnp": "rs2296173",
"frequency_reference_population": 0.19656478,
"hom_count_reference_population": 33080,
"allele_count_reference_population": 317241,
"gnomad_exomes_af": 0.200362,
"gnomad_genomes_af": 0.160091,
"gnomad_exomes_ac": 292877,
"gnomad_genomes_ac": 24364,
"gnomad_exomes_homalt": 30649,
"gnomad_genomes_homalt": 2431,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.713,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000564288.6",
"gene_symbol": "MACF1",
"hgnc_id": 13664,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.19762-13A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Lissencephaly 9 with complex brainstem malformation,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Lissencephaly 9 with complex brainstem malformation",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}