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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: 14-94382912-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94382912&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINA1",
"hgnc_id": 8941,
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000295.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 53,
"alphamissense_prediction": null,
"alphamissense_score": 0.1304,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Alpha-1-antitrypsin deficiency,PI Z(BRISTOL),not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8707363605499268,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 373,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000295.5",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393087.9",
"protein_coding": true,
"protein_id": "NP_000286.3",
"strand": false,
"transcript": "NM_000295.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 373,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393087.9",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000295.5",
"protein_coding": true,
"protein_id": "ENSP00000376802.4",
"strand": false,
"transcript": "ENST00000393087.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3236,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000355814.8",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348068.4",
"strand": false,
"transcript": "ENST00000355814.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393088.8",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376803.4",
"strand": false,
"transcript": "ENST00000393088.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000404814.8",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385960.4",
"strand": false,
"transcript": "ENST00000404814.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000437397.5",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408474.1",
"strand": false,
"transcript": "ENST00000437397.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000440909.5",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390299.1",
"strand": false,
"transcript": "ENST00000440909.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000448921.5",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416066.1",
"strand": false,
"transcript": "ENST00000448921.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000449399.7",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416354.3",
"strand": false,
"transcript": "ENST00000449399.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 359,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 360,
"cds_end": null,
"cds_length": 1080,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000402629.1",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386094.1",
"strand": false,
"transcript": "ENST00000402629.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000489769.1",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "n.326C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451525.1",
"strand": false,
"transcript": "ENST00000489769.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001002235.3",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002235.1",
"strand": false,
"transcript": "NM_001002235.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001002236.3",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002236.1",
"strand": false,
"transcript": "NM_001002236.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001127700.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121172.1",
"strand": false,
"transcript": "NM_001127700.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127701.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121173.1",
"strand": false,
"transcript": "NM_001127701.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001127702.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121174.1",
"strand": false,
"transcript": "NM_001127702.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127703.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121175.1",
"strand": false,
"transcript": "NM_001127703.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127704.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121176.1",
"strand": false,
"transcript": "NM_001127704.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3453,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127705.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121177.1",
"strand": false,
"transcript": "NM_001127705.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3246,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001127706.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Thr109Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121178.1",
"strand": false,
"transcript": "NM_001127706.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "T",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1257,
"cds_start": 326,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001127707.2",
"gene_hgnc_id": 8941,
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"gnomad_exomes_ac": 43,
"gnomad_exomes_af": 0.0000294425,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000656392,
"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": "PI Z(BRISTOL)|not provided|Alpha-1-antitrypsin deficiency",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.244,
"pos": 94382912,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.593,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000295.5"
}
]
}