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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: 11-60286718-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=60286718&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 60286718,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_148975.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.42-5507G>C",
"hgvs_p": null,
"transcript": "NM_148975.3",
"protein_id": "NP_683876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337908.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148975.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.42-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000337908.5",
"protein_id": "ENSP00000338648.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_148975.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337908.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.60-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000649552.2",
"protein_id": "ENSP00000497952.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649552.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.60-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000679553.1",
"protein_id": "ENSP00000505712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.60-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000681288.1",
"protein_id": "ENSP00000505714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.60-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000680301.1",
"protein_id": "ENSP00000506147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680301.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.-17+3979G>C",
"hgvs_p": null,
"transcript": "NM_024021.4",
"protein_id": "NP_076926.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024021.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.-16-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000680537.1",
"protein_id": "ENSP00000506179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.-16-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000680757.1",
"protein_id": "ENSP00000505293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.42-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000895188.1",
"protein_id": "ENSP00000565248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895188.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.60-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000681406.1",
"protein_id": "ENSP00000505926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681406.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.42-5507G>C",
"hgvs_p": null,
"transcript": "NM_001243266.2",
"protein_id": "NP_001230195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243266.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.42-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000532114.6",
"protein_id": "ENSP00000434506.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 186,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532114.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.-16-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000680935.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680935.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.42-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000970116.1",
"protein_id": "ENSP00000640175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970116.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.-24-10479G>C",
"hgvs_p": null,
"transcript": "ENST00000679385.1",
"protein_id": "ENSP00000506313.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679385.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.-25+6002G>C",
"hgvs_p": null,
"transcript": "ENST00000679988.1",
"protein_id": "ENSP00000506432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679988.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "c.42-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000970117.1",
"protein_id": "ENSP00000640176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970117.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.187+3979G>C",
"hgvs_p": null,
"transcript": "ENST00000343968.8",
"protein_id": "ENSP00000340356.4",
"transcript_support_level": 2,
"aa_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000343968.8"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.187+3979G>C",
"hgvs_p": null,
"transcript": "ENST00000527056.5",
"protein_id": "ENSP00000435309.1",
"transcript_support_level": 5,
"aa_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527056.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.42-3331G>C",
"hgvs_p": null,
"transcript": "ENST00000529950.2",
"protein_id": "ENSP00000434983.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529950.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MS4A4A",
"gene_hgnc_id": 13371,
"hgvs_c": "n.158-5507G>C",
"hgvs_p": null,
"transcript": "ENST00000529991.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000529991.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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],
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"gnomad_genomes_ac": 26838,
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"gnomad_genomes_homalt": 3111,
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"computational_score_selected": -1.0299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -1.03,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.932,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_148975.3",
"gene_symbol": "MS4A4A",
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"effects": [
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}