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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: 1-39331383-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=39331383&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 39331383,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000564288.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4795A>T",
"hgvs_p": "p.Ile1599Leu",
"transcript": "NM_001394062.1",
"protein_id": "NP_001380991.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 7555,
"cds_start": 4795,
"cds_end": null,
"cds_length": 22668,
"cdna_start": 5123,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "ENST00000564288.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4795A>T",
"hgvs_p": "p.Ile1599Leu",
"transcript": "ENST00000564288.6",
"protein_id": "ENSP00000455274.1",
"transcript_support_level": 5,
"aa_start": 1599,
"aa_end": null,
"aa_length": 7555,
"cds_start": 4795,
"cds_end": null,
"cds_length": 22668,
"cdna_start": 5123,
"cdna_end": null,
"cdna_length": 24340,
"mane_select": "NM_001394062.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 101,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4906A>T",
"hgvs_p": "p.Ile1636Leu",
"transcript": "ENST00000567887.5",
"protein_id": "ENSP00000455823.1",
"transcript_support_level": 5,
"aa_start": 1636,
"aa_end": null,
"aa_length": 7592,
"cds_start": 4906,
"cds_end": null,
"cds_length": 22779,
"cdna_start": 5063,
"cdna_end": null,
"cdna_length": 24319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 96,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4810A>T",
"hgvs_p": "p.Ile1604Leu",
"transcript": "ENST00000372915.8",
"protein_id": "ENSP00000362006.4",
"transcript_support_level": 5,
"aa_start": 1604,
"aa_end": null,
"aa_length": 7385,
"cds_start": 4810,
"cds_end": null,
"cds_length": 22158,
"cdna_start": 4897,
"cdna_end": null,
"cdna_length": 23431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4642A>T",
"hgvs_p": "p.Ile1548Leu",
"transcript": "ENST00000672812.1",
"protein_id": "ENSP00000499888.1",
"transcript_support_level": null,
"aa_start": 1548,
"aa_end": null,
"aa_length": 2145,
"cds_start": 4642,
"cds_end": null,
"cds_length": 6440,
"cdna_start": 4747,
"cdna_end": null,
"cdna_length": 6545,
"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": 1,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.246A>T",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.*269A>T",
"hgvs_p": null,
"transcript": "ENST00000673926.1",
"protein_id": "ENSP00000501154.1",
"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": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.*269A>T",
"hgvs_p": null,
"transcript": "ENST00000673926.1",
"protein_id": "ENSP00000501154.1",
"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": 5693,
"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": 35,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4629+4030A>T",
"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": 36,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4629+4030A>T",
"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": 35,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.4476+4030A>T",
"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": 15,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.2028+4030A>T",
"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": 35,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "c.5076+4030A>T",
"hgvs_p": null,
"transcript": "ENST00000530262.5",
"protein_id": "ENSP00000437059.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2027,
"cds_start": -4,
"cds_end": null,
"cds_length": 6086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6257,
"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": 26,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.2029+4030A>T",
"hgvs_p": null,
"transcript": "ENST00000476350.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"hgvs_c": "n.*139A>T",
"hgvs_p": null,
"transcript": "ENST00000528611.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MACF1",
"gene_hgnc_id": 13664,
"dbsnp": "rs16826069",
"frequency_reference_population": 6.840703e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8407e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027591466903686523,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.0491,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.098,
"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": "ENST00000564288.6",
"gene_symbol": "MACF1",
"hgnc_id": 13664,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4795A>T",
"hgvs_p": "p.Ile1599Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}