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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: 11-60297290-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=60297290&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MS4A4A",
"hgnc_id": 13371,
"hgvs_c": "c.295G>T",
"hgvs_p": "p.Val99Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_148975.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3308,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16672950983047485,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 239,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 305,
"cds_end": null,
"cds_length": 720,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_148975.3",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.295G>T",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337908.5",
"protein_coding": true,
"protein_id": "NP_683876.1",
"strand": true,
"transcript": "NM_148975.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 239,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 305,
"cds_end": null,
"cds_length": 720,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000337908.5",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.295G>T",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_148975.3",
"protein_coding": true,
"protein_id": "ENSP00000338648.4",
"strand": true,
"transcript": "ENST00000337908.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 293,
"aa_ref": "V",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1183,
"cdna_start": 614,
"cds_end": null,
"cds_length": 882,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000649552.2",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Val105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497952.2",
"strand": true,
"transcript": "ENST00000649552.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 245,
"aa_ref": "V",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 769,
"cds_end": null,
"cds_length": 738,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000679553.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Val105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505712.1",
"strand": true,
"transcript": "ENST00000679553.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 245,
"aa_ref": "V",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 609,
"cds_end": null,
"cds_length": 738,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000681288.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Val105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505714.1",
"strand": true,
"transcript": "ENST00000681288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 240,
"aa_ref": "V",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 751,
"cds_end": null,
"cds_length": 723,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680301.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Val105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506147.1",
"strand": true,
"transcript": "ENST00000680301.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 220,
"aa_ref": "V",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 451,
"cds_end": null,
"cds_length": 663,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_024021.4",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076926.2",
"strand": true,
"transcript": "NM_024021.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 220,
"aa_ref": "V",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 594,
"cds_end": null,
"cds_length": 663,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680537.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506179.1",
"strand": true,
"transcript": "ENST00000680537.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 220,
"aa_ref": "V",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 474,
"cds_end": null,
"cds_length": 663,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680757.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505293.1",
"strand": true,
"transcript": "ENST00000680757.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 192,
"aa_ref": "V",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 751,
"cds_end": null,
"cds_length": 579,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000681406.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Val105Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505926.1",
"strand": true,
"transcript": "ENST00000681406.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 186,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1363,
"cdna_start": 305,
"cds_end": null,
"cds_length": 561,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001243266.2",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.295G>T",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230195.1",
"strand": true,
"transcript": "NM_001243266.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 186,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 430,
"cds_end": null,
"cds_length": 561,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532114.6",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.295G>T",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434506.1",
"strand": true,
"transcript": "ENST00000532114.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "V",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 857,
"cds_end": null,
"cds_length": 504,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680935.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505050.1",
"strand": true,
"transcript": "ENST00000680935.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 411,
"cds_end": null,
"cds_length": 504,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970116.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.295G>T",
"hgvs_p": "p.Val99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640175.1",
"strand": true,
"transcript": "ENST00000970116.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "V",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 564,
"cds_end": null,
"cds_length": 495,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000679385.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Val24Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506313.1",
"strand": true,
"transcript": "ENST00000679385.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "V",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 234,
"cds_end": null,
"cds_length": 495,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000679988.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Val24Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506432.1",
"strand": true,
"transcript": "ENST00000679988.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 196,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": null,
"cds_end": null,
"cds_length": 591,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895188.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.202-3711G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565248.1",
"strand": true,
"transcript": "ENST00000895188.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 143,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 803,
"cdna_start": null,
"cds_end": null,
"cds_length": 432,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970117.1",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "c.202-3711G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640176.1",
"strand": true,
"transcript": "ENST00000970117.1",
"transcript_support_level": null
},
{
"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": 1676,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000343968.8",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "n.*234G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000340356.4",
"strand": true,
"transcript": "ENST00000343968.8",
"transcript_support_level": 2
},
{
"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": 851,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000527056.5",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "n.*386G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435309.1",
"strand": true,
"transcript": "ENST00000527056.5",
"transcript_support_level": 5
},
{
"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": 1706,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000529950.2",
"gene_hgnc_id": 13371,
"gene_symbol": "MS4A4A",
"hgvs_c": "n.*372G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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