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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: 16-75612612-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75612612&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 75612612,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000564657.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Pro225Leu",
"transcript": "NM_001324445.2",
"protein_id": "NP_001311374.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 502,
"cds_start": 674,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 5757,
"mane_select": "ENST00000564657.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Pro225Leu",
"transcript": "ENST00000564657.2",
"protein_id": "ENSP00000457501.2",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 502,
"cds_start": 674,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 5757,
"mane_select": "NM_001324445.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Pro225Leu",
"transcript": "ENST00000307921.7",
"protein_id": "ENSP00000310015.3",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 502,
"cds_start": 674,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Pro225Leu",
"transcript": "NM_012091.5",
"protein_id": "NP_036223.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 502,
"cds_start": 674,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Pro225Leu",
"transcript": "NM_001324448.2",
"protein_id": "NP_001311377.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 420,
"cds_start": 674,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Pro225Leu",
"transcript": "NM_001324449.2",
"protein_id": "NP_001311378.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 420,
"cds_start": 674,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 5511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "NM_001324452.2",
"protein_id": "NP_001311381.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 415,
"cds_start": 413,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "NM_001324444.2",
"protein_id": "NP_001311373.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 353,
"cds_start": 227,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "NM_001324446.2",
"protein_id": "NP_001311375.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 353,
"cds_start": 227,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 5775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Pro138Leu",
"transcript": "NM_001324453.2",
"protein_id": "NP_001311382.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 333,
"cds_start": 413,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "NM_001324450.2",
"protein_id": "NP_001311379.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 271,
"cds_start": 227,
"cds_end": null,
"cds_length": 816,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "NM_001324451.2",
"protein_id": "NP_001311380.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 271,
"cds_start": 227,
"cds_end": null,
"cds_length": 816,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 5569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "n.*420C>T",
"hgvs_p": null,
"transcript": "ENST00000566445.5",
"protein_id": "ENSP00000456768.1",
"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": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "n.*420C>T",
"hgvs_p": null,
"transcript": "ENST00000566445.5",
"protein_id": "ENSP00000456768.1",
"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": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "c.*192C>T",
"hgvs_p": null,
"transcript": "ENST00000567281.5",
"protein_id": "ENSP00000455108.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
"cds_end": null,
"cds_length": 482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 547,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"hgvs_c": "n.*343C>T",
"hgvs_p": null,
"transcript": "ENST00000568001.5",
"protein_id": "ENSP00000457999.1",
"transcript_support_level": 4,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAT1",
"gene_hgnc_id": 228,
"dbsnp": "rs193920811",
"frequency_reference_population": 0.0000065779086,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657791,
"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": 0.09132486581802368,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.076,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000564657.2",
"gene_symbol": "ADAT1",
"hgnc_id": 228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Pro225Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}