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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: 22-41987241-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41987241&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEPTIN3",
"hgnc_id": 10750,
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Val621Ile",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001363845.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 203,
"alphamissense_prediction": null,
"alphamissense_score": 0.0898,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "22",
"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": 0.09610149264335632,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 856,
"aa_ref": "V",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363845.2",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Val621Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644076.2",
"protein_coding": true,
"protein_id": "NP_001350774.1",
"strand": true,
"transcript": "NM_001363845.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 856,
"aa_ref": "V",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644076.2",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Val621Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001363845.2",
"protein_coding": true,
"protein_id": "ENSP00000494051.1",
"strand": true,
"transcript": "ENST00000644076.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 358,
"aa_ref": "V",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 622,
"cds_end": null,
"cds_length": 1077,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396426.7",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379704.3",
"strand": true,
"transcript": "ENST00000396426.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 350,
"aa_ref": "V",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1053,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396425.8",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379703.3",
"strand": true,
"transcript": "ENST00000396425.8",
"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": 1896,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396417.2",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "n.203-381G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000379695.2",
"strand": true,
"transcript": "ENST00000396417.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 848,
"aa_ref": "V",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6266,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1861,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001389668.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Val621Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376597.1",
"strand": true,
"transcript": "NM_001389668.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 813,
"aa_ref": "V",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 1986,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001389669.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Val578Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376598.1",
"strand": true,
"transcript": "NM_001389669.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 792,
"aa_ref": "V",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3887,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001389670.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Val557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376599.1",
"strand": true,
"transcript": "NM_001389670.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 2355,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001389671.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Val557Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376600.1",
"strand": true,
"transcript": "NM_001389671.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 749,
"aa_ref": "V",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 1794,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001389672.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376601.1",
"strand": true,
"transcript": "NM_001389672.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 741,
"aa_ref": "V",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5945,
"cdna_start": 1794,
"cds_end": null,
"cds_length": 2226,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001389673.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376602.1",
"strand": true,
"transcript": "NM_001389673.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 358,
"aa_ref": "V",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1077,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_145733.3",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663786.2",
"strand": true,
"transcript": "NM_145733.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 350,
"aa_ref": "V",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1053,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_019106.6",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.367G>A",
"hgvs_p": "p.Val123Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061979.3",
"strand": true,
"transcript": "NM_019106.6",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 345,
"aa_ref": "V",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1038,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001389674.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376603.1",
"strand": true,
"transcript": "NM_001389674.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 337,
"aa_ref": "V",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1014,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001389675.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376604.1",
"strand": true,
"transcript": "NM_001389675.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "V",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 525,
"cds_end": null,
"cds_length": 948,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001389676.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Val80Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376605.1",
"strand": true,
"transcript": "NM_001389676.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 307,
"aa_ref": "V",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 525,
"cds_end": null,
"cds_length": 924,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001389677.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Val80Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376606.1",
"strand": true,
"transcript": "NM_001389677.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 294,
"aa_ref": "V",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4454,
"cdna_start": 303,
"cds_end": null,
"cds_length": 885,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001389678.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Val67Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376607.1",
"strand": true,
"transcript": "NM_001389678.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 294,
"aa_ref": "V",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 395,
"cds_end": null,
"cds_length": 885,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000406029.5",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Val59Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383956.1",
"strand": true,
"transcript": "ENST00000406029.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 286,
"aa_ref": "V",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4613,
"cdna_start": 462,
"cds_end": null,
"cds_length": 861,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001389679.1",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Val59Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376608.1",
"strand": true,
"transcript": "NM_001389679.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 177,
"aa_ref": "V",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 876,
"cdna_start": 669,
"cds_end": null,
"cds_length": 535,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000449288.5",
"gene_hgnc_id": 10750,
"gene_symbol": "SEPTIN3",
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Val110Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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},
{
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],
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"feature": "ENST00000460267.1",
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],
"custom_annotations": null,
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"dbsnp": "rs200257467",
"effect": "missense_variant",
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"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.099,
"pos": 41987241,
"ref": "G",
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"splice_source_selected": "max_spliceai",
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}
]
}