← Back to variant description
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: 16-1809791-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1809791&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "HAGH",
"hgnc_id": 4805,
"hgvs_c": "c.681G>A",
"hgvs_p": "p.Trp227*",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001286249.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1045,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.4228976368904114,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 828,
"cds_end": null,
"cds_length": 927,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005326.6",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Ala264Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397356.8",
"protein_coding": true,
"protein_id": "NP_005317.2",
"strand": false,
"transcript": "NM_005326.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 828,
"cds_end": null,
"cds_length": 927,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000397356.8",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Ala264Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005326.6",
"protein_coding": true,
"protein_id": "ENSP00000380514.3",
"strand": false,
"transcript": "ENST00000397356.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 236,
"aa_ref": "W",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 711,
"cds_start": 681,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001286249.2",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.681G>A",
"hgvs_p": "p.Trp227*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273178.1",
"strand": false,
"transcript": "NM_001286249.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 236,
"aa_ref": "W",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1276,
"cdna_start": 728,
"cds_end": null,
"cds_length": 711,
"cds_start": 681,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000455446.6",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.681G>A",
"hgvs_p": "p.Trp227*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406552.2",
"strand": false,
"transcript": "ENST00000455446.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 236,
"aa_ref": "W",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 711,
"cds_start": 681,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011522470.4",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.681G>A",
"hgvs_p": "p.Trp227*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520772.1",
"strand": false,
"transcript": "XM_011522470.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 878,
"cds_end": null,
"cds_length": 966,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945501.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Ala277Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615560.1",
"strand": false,
"transcript": "ENST00000945501.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 805,
"cds_end": null,
"cds_length": 927,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851988.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Ala264Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522047.1",
"strand": false,
"transcript": "ENST00000851988.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 308,
"aa_ref": "A",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 830,
"cds_end": null,
"cds_length": 927,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851989.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Ala264Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522048.1",
"strand": false,
"transcript": "ENST00000851989.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 307,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 831,
"cds_end": null,
"cds_length": 924,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945502.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615561.1",
"strand": false,
"transcript": "ENST00000945502.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 306,
"aa_ref": "A",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 921,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001363912.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Ala264Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350841.1",
"strand": false,
"transcript": "NM_001363912.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1116,
"cdna_start": 801,
"cds_end": null,
"cds_length": 900,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000851990.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Ala255Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522049.1",
"strand": false,
"transcript": "ENST00000851990.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 260,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 783,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001040427.2",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035517.1",
"strand": false,
"transcript": "NM_001040427.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 260,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1257,
"cdna_start": 940,
"cds_end": null,
"cds_length": 783,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000397353.6",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380511.2",
"strand": false,
"transcript": "ENST00000397353.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 258,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 777,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001363914.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350843.1",
"strand": false,
"transcript": "NM_001363914.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 258,
"aa_ref": "A",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 931,
"cds_end": null,
"cds_length": 777,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000566709.5",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Ala216Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455422.1",
"strand": false,
"transcript": "ENST00000566709.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": 581,
"cds_end": null,
"cds_length": 717,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000564445.5",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Ala194Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455355.1",
"strand": false,
"transcript": "ENST00000564445.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 237,
"aa_ref": "A",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": 593,
"cds_end": null,
"cds_length": 714,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945503.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615562.1",
"strand": false,
"transcript": "ENST00000945503.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 64,
"aa_ref": "A",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 612,
"cdna_start": 58,
"cds_end": null,
"cds_length": 195,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000566644.5",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "c.58G>A",
"hgvs_p": "p.Ala20Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457986.1",
"strand": false,
"transcript": "ENST00000566644.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000567398.1",
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"hgvs_c": "n.1158G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000567398.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs749840672",
"effect": "stop_gained",
"frequency_reference_population": 0.0000030982505,
"gene_hgnc_id": 4805,
"gene_symbol": "HAGH",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84178e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262802,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.519,
"pos": 1809791,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.484,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001286249.2"
}
]
}