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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: 18-46098207-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46098207&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP5F1A",
"hgnc_id": 823,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_004046.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 826,
"alphamissense_prediction": null,
"alphamissense_score": 0.1351,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "18",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "ATP5F1A-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008045375347137451,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 553,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5761,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1662,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_004046.6",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398752.11",
"protein_coding": true,
"protein_id": "NP_004037.1",
"strand": false,
"transcript": "NM_004046.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 553,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5761,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1662,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000398752.11",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004046.6",
"protein_coding": true,
"protein_id": "ENSP00000381736.5",
"strand": false,
"transcript": "ENST00000398752.11",
"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": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000588390.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "n.89G>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": "ENST00000588390.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 553,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 164,
"cds_end": null,
"cds_length": 1662,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001001937.2",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001937.1",
"strand": false,
"transcript": "NM_001001937.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 553,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 170,
"cds_end": null,
"cds_length": 1662,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000282050.6",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000282050.2",
"strand": false,
"transcript": "ENST00000282050.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 88,
"cds_end": null,
"cds_length": 1644,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858814.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528873.1",
"strand": false,
"transcript": "ENST00000858814.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1638,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000966007.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636066.1",
"strand": false,
"transcript": "ENST00000966007.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 100,
"cds_end": null,
"cds_length": 1632,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939704.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609763.1",
"strand": false,
"transcript": "ENST00000939704.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 531,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5695,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1596,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001257334.2",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244263.1",
"strand": false,
"transcript": "NM_001257334.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 531,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1596,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000590665.5",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467037.1",
"strand": false,
"transcript": "ENST00000590665.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 523,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 73,
"cds_end": null,
"cds_length": 1572,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858818.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528877.1",
"strand": false,
"transcript": "ENST00000858818.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 517,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1554,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858812.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528871.1",
"strand": false,
"transcript": "ENST00000858812.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1718,
"cdna_start": 73,
"cds_end": null,
"cds_length": 1536,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858817.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528876.1",
"strand": false,
"transcript": "ENST00000858817.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 495,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 89,
"cds_end": null,
"cds_length": 1488,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858815.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528874.1",
"strand": false,
"transcript": "ENST00000858815.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 57,
"cds_end": null,
"cds_length": 1413,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939706.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609765.1",
"strand": false,
"transcript": "ENST00000939706.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 412,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 73,
"cds_end": null,
"cds_length": 1239,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858816.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528875.1",
"strand": false,
"transcript": "ENST00000858816.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1274,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1074,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000858813.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528872.1",
"strand": false,
"transcript": "ENST00000858813.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 204,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 756,
"cdna_start": 164,
"cds_end": null,
"cds_length": 617,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000590406.5",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468458.1",
"strand": false,
"transcript": "ENST00000590406.5",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 198,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": 89,
"cds_end": null,
"cds_length": 598,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000589252.5",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466975.1",
"strand": false,
"transcript": "ENST00000589252.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 181,
"aa_ref": "A",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 73,
"cds_end": null,
"cds_length": 546,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000939705.1",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Ala9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609764.1",
"strand": false,
"transcript": "ENST00000939705.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5834,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001001935.3",
"gene_hgnc_id": 823,
"gene_symbol": "ATP5F1A",
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