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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: 17-19663376-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19663376&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALDH3A2",
"hgnc_id": 403,
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001031806.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9264,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9862872958183289,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000382.3",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000176643.11",
"protein_coding": true,
"protein_id": "NP_000373.1",
"strand": true,
"transcript": "NM_000382.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000176643.11",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000382.3",
"protein_coding": true,
"protein_id": "ENSP00000176643.6",
"strand": true,
"transcript": "ENST00000176643.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 508,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1527,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000339618.8",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345774.4",
"strand": true,
"transcript": "ENST00000339618.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000476965.5",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "n.734G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000476965.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 97,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 294,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000630662.2",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487353.1",
"strand": true,
"transcript": "ENST00000630662.2",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 76,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 413,
"cdna_start": 3,
"cds_end": null,
"cds_length": 231,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000571163.2",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459977.2",
"strand": true,
"transcript": "ENST00000571163.2",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 521,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1566,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000671878.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500516.1",
"strand": true,
"transcript": "ENST00000671878.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 521,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1566,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000672465.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500517.1",
"strand": true,
"transcript": "ENST00000672465.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 508,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1527,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001031806.2",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001026976.1",
"strand": true,
"transcript": "NM_001031806.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 508,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1527,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369136.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356065.1",
"strand": true,
"transcript": "NM_001369136.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 508,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3774,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1527,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369137.2",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356066.1",
"strand": true,
"transcript": "NM_001369137.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369138.2",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356067.1",
"strand": true,
"transcript": "NM_001369138.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369139.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356068.1",
"strand": true,
"transcript": "NM_001369139.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000579855.5",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463637.1",
"strand": true,
"transcript": "ENST00000579855.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000581518.6",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461916.2",
"strand": true,
"transcript": "ENST00000581518.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000672357.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500092.1",
"strand": true,
"transcript": "ENST00000672357.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877756.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547815.1",
"strand": true,
"transcript": "ENST00000877756.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877757.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547816.1",
"strand": true,
"transcript": "ENST00000877757.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 485,
"aa_ref": "M",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1458,
"cds_start": 984,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948947.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.984G>C",
"hgvs_p": "p.Met328Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619006.1",
"strand": true,
"transcript": "ENST00000948947.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "M",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 1145,
"cds_end": null,
"cds_length": 1425,
"cds_start": 951,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000877753.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.951G>C",
"hgvs_p": "p.Met317Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547812.1",
"strand": true,
"transcript": "ENST00000877753.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 474,
"aa_ref": "M",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1425,
"cds_start": 951,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000932536.1",
"gene_hgnc_id": 403,
"gene_symbol": "ALDH3A2",
"hgvs_c": "c.951G>C",
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]
}