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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: 4-87981540-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=87981540&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPP1",
"hgnc_id": 11255,
"hgvs_c": "c.321T>G",
"hgvs_p": "p.Asp107Glu",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001251830.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286618",
"hgnc_id": null,
"hgvs_c": "n.308-5678A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000662475.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1352,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04939553141593933,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 314,
"aa_ref": "D",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 383,
"cds_end": null,
"cds_length": 945,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001040058.2",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.282T>G",
"hgvs_p": "p.Asp94Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395080.8",
"protein_coding": true,
"protein_id": "NP_001035147.1",
"strand": true,
"transcript": "NM_001040058.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 314,
"aa_ref": "D",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 383,
"cds_end": null,
"cds_length": 945,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000395080.8",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.282T>G",
"hgvs_p": "p.Asp94Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040058.2",
"protein_coding": true,
"protein_id": "ENSP00000378517.3",
"strand": true,
"transcript": "ENST00000395080.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 300,
"aa_ref": "D",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 388,
"cds_end": null,
"cds_length": 903,
"cds_start": 240,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000237623.11",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.240T>G",
"hgvs_p": "p.Asp80Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000237623.7",
"strand": true,
"transcript": "ENST00000237623.11",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 287,
"aa_ref": "D",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 302,
"cds_end": null,
"cds_length": 864,
"cds_start": 201,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000360804.4",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Asp67Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354042.4",
"strand": true,
"transcript": "ENST00000360804.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000509659.5",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "n.571T>G",
"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": "ENST00000509659.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 327,
"aa_ref": "D",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 572,
"cds_end": null,
"cds_length": 984,
"cds_start": 321,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001251830.2",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.321T>G",
"hgvs_p": "p.Asp107Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238759.1",
"strand": true,
"transcript": "NM_001251830.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 314,
"aa_ref": "D",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 432,
"cds_end": null,
"cds_length": 945,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000614857.5",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.282T>G",
"hgvs_p": "p.Asp94Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477824.2",
"strand": true,
"transcript": "ENST00000614857.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 314,
"aa_ref": "D",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 448,
"cds_end": null,
"cds_length": 945,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882523.1",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.282T>G",
"hgvs_p": "p.Asp94Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552582.1",
"strand": true,
"transcript": "ENST00000882523.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 314,
"aa_ref": "D",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 374,
"cds_end": null,
"cds_length": 945,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000942419.1",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.282T>G",
"hgvs_p": "p.Asp94Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612478.1",
"strand": true,
"transcript": "ENST00000942419.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 311,
"aa_ref": "D",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 374,
"cds_end": null,
"cds_length": 936,
"cds_start": 273,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882522.1",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.273T>G",
"hgvs_p": "p.Asp91Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552581.1",
"strand": true,
"transcript": "ENST00000882522.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 300,
"aa_ref": "D",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 341,
"cds_end": null,
"cds_length": 903,
"cds_start": 240,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000582.3",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.240T>G",
"hgvs_p": "p.Asp80Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000573.1",
"strand": true,
"transcript": "NM_000582.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 300,
"aa_ref": "D",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 311,
"cds_end": null,
"cds_length": 903,
"cds_start": 240,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000942420.1",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.240T>G",
"hgvs_p": "p.Asp80Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612479.1",
"strand": true,
"transcript": "ENST00000942420.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 297,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 332,
"cds_end": null,
"cds_length": 894,
"cds_start": 231,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882525.1",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.231T>G",
"hgvs_p": "p.Asp77Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552584.1",
"strand": true,
"transcript": "ENST00000882525.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 295,
"aa_ref": "D",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 324,
"cds_end": null,
"cds_length": 888,
"cds_start": 225,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920430.1",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.225T>G",
"hgvs_p": "p.Asp75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590489.1",
"strand": true,
"transcript": "ENST00000920430.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 287,
"aa_ref": "D",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 302,
"cds_end": null,
"cds_length": 864,
"cds_start": 201,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001040060.2",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Asp67Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035149.1",
"strand": true,
"transcript": "NM_001040060.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 287,
"aa_ref": "D",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 864,
"cds_start": 201,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882524.1",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.201T>G",
"hgvs_p": "p.Asp67Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552583.1",
"strand": true,
"transcript": "ENST00000882524.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 273,
"aa_ref": "D",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1438,
"cdna_start": 260,
"cds_end": null,
"cds_length": 822,
"cds_start": 159,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001251829.2",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Asp53Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238758.1",
"strand": true,
"transcript": "NM_001251829.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 273,
"aa_ref": "D",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": 260,
"cds_end": null,
"cds_length": 822,
"cds_start": 159,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000508233.6",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.159T>G",
"hgvs_p": "p.Asp53Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422973.2",
"strand": true,
"transcript": "ENST00000508233.6",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 192,
"aa_ref": "D",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 834,
"cdna_start": 383,
"cds_end": null,
"cds_length": 579,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000682655.1",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "c.282T>G",
"hgvs_p": "p.Asp94Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508280.1",
"strand": true,
"transcript": "ENST00000682655.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 760,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000509334.5",
"gene_hgnc_id": 11255,
"gene_symbol": "SPP1",
"hgvs_c": "n.539T>G",
"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": "ENST00000509334.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 719,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
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