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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: 16-1809360-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1809360&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1809360,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005326.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Ala284Thr",
"transcript": "NM_005326.6",
"protein_id": "NP_005317.2",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 308,
"cds_start": 850,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397356.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005326.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Ala284Thr",
"transcript": "ENST00000397356.8",
"protein_id": "ENSP00000380514.3",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 308,
"cds_start": 850,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005326.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397356.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Ala297Thr",
"transcript": "ENST00000945501.1",
"protein_id": "ENSP00000615560.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 321,
"cds_start": 889,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945501.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Ala284Thr",
"transcript": "ENST00000851988.1",
"protein_id": "ENSP00000522047.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 308,
"cds_start": 850,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851988.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Ala284Thr",
"transcript": "ENST00000851989.1",
"protein_id": "ENSP00000522048.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 308,
"cds_start": 850,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851989.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Ala283Thr",
"transcript": "ENST00000945502.1",
"protein_id": "ENSP00000615561.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 307,
"cds_start": 847,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945502.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "NM_001363912.1",
"protein_id": "NP_001350841.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 306,
"cds_start": 914,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363912.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Ala275Thr",
"transcript": "ENST00000851990.1",
"protein_id": "ENSP00000522049.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 299,
"cds_start": 823,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851990.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Ala236Thr",
"transcript": "NM_001040427.2",
"protein_id": "NP_001035517.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 260,
"cds_start": 706,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040427.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Ala236Thr",
"transcript": "ENST00000397353.6",
"protein_id": "ENSP00000380511.2",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 260,
"cds_start": 706,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397353.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "NM_001363914.1",
"protein_id": "NP_001350843.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 258,
"cds_start": 770,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363914.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257His",
"transcript": "ENST00000566709.5",
"protein_id": "ENSP00000455422.1",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 258,
"cds_start": 770,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566709.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000564445.5",
"protein_id": "ENSP00000455355.1",
"transcript_support_level": 3,
"aa_start": 214,
"aa_end": null,
"aa_length": 238,
"cds_start": 640,
"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": "ENST00000564445.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Ala213Thr",
"transcript": "ENST00000945503.1",
"protein_id": "ENSP00000615562.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 237,
"cds_start": 637,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945503.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Ala40Thr",
"transcript": "ENST00000566644.5",
"protein_id": "ENSP00000457986.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 64,
"cds_start": 118,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566644.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.*30G>A",
"hgvs_p": null,
"transcript": "NM_001286249.2",
"protein_id": "NP_001273178.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286249.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.*30G>A",
"hgvs_p": null,
"transcript": "ENST00000455446.6",
"protein_id": "ENSP00000406552.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455446.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "c.*94G>A",
"hgvs_p": null,
"transcript": "XM_011522470.4",
"protein_id": "XP_011520772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522470.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HAGH",
"gene_hgnc_id": 4805,
"hgvs_c": "n.1218G>A",
"hgvs_p": null,
"transcript": "ENST00000567398.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000567398.1"
}
],
"gene_symbol": "HAGH",
"gene_hgnc_id": 4805,
"dbsnp": "rs757638249",
"frequency_reference_population": 0.000029152892,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000294521,
"gnomad_genomes_af": 0.0000262826,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10483714938163757,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.345,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.493,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005326.6",
"gene_symbol": "HAGH",
"hgnc_id": 4805,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Ala284Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}