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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: 14-94380908-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94380908&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINA1",
"hgnc_id": 8941,
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000295.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1682,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4985409677028656,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000295.5",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000393087.9",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3236,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000355814.8",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393088.8",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000404814.8",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000437397.5",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000440909.5",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000448921.5",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000449399.7",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 359,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1450,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1080,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000402629.1",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": 2,
"exon_rank_end": null,
"feature": "ENST00000489769.1",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "n.880G>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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001002235.3",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001002236.3",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001127700.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001127701.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127702.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001127703.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001127704.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3453,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001127705.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3246,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127706.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Asp294Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 418,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 1257,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127707.2",
"gene_hgnc_id": 8941,
"gene_symbol": "SERPINA1",
"hgvs_c": "c.880G>T",
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