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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: 11-60179931-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=60179931&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 60179931,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001330275.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "NM_022349.4",
"protein_id": "NP_071744.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 225,
"cds_start": 182,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000528851.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022349.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000528851.6",
"protein_id": "ENSP00000431901.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 225,
"cds_start": 182,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022349.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528851.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000420732.6",
"protein_id": "ENSP00000392921.2",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 178,
"cds_start": 182,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420732.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "NM_001330275.1",
"protein_id": "NP_001317204.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 276,
"cds_start": 266,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330275.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "ENST00000529054.5",
"protein_id": "ENSP00000435844.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 276,
"cds_start": 266,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529054.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "NM_001247999.2",
"protein_id": "NP_001234928.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 253,
"cds_start": 266,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001247999.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "ENST00000412309.6",
"protein_id": "ENSP00000403212.2",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 253,
"cds_start": 266,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412309.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "ENST00000426738.6",
"protein_id": "ENSP00000392770.3",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 253,
"cds_start": 266,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426738.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "NM_152852.3",
"protein_id": "NP_690591.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 248,
"cds_start": 182,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152852.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000530839.6",
"protein_id": "ENSP00000436979.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 248,
"cds_start": 182,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530839.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000874249.1",
"protein_id": "ENSP00000544308.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 225,
"cds_start": 182,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874249.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000874250.1",
"protein_id": "ENSP00000544309.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 225,
"cds_start": 182,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874250.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000874251.1",
"protein_id": "ENSP00000544310.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 225,
"cds_start": 182,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874251.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000874252.1",
"protein_id": "ENSP00000544311.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 225,
"cds_start": 182,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874252.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000962193.1",
"protein_id": "ENSP00000632252.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 225,
"cds_start": 182,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962193.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "NM_152851.2",
"protein_id": "NP_690590.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 178,
"cds_start": 182,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152851.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Ser61Asn",
"transcript": "ENST00000532169.5",
"protein_id": "ENSP00000431266.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 141,
"cds_start": 182,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532169.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "ENST00000534596.5",
"protein_id": "ENSP00000433436.1",
"transcript_support_level": 4,
"aa_start": 89,
"aa_end": null,
"aa_length": 100,
"cds_start": 266,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534596.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "XM_005274177.4",
"protein_id": "XP_005274234.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 276,
"cds_start": 266,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274177.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "XM_024448652.2",
"protein_id": "XP_024304420.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 276,
"cds_start": 266,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448652.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "XM_011545209.2",
"protein_id": "XP_011543511.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 148,
"cds_start": 266,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545209.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MS4A6A",
"gene_hgnc_id": 13375,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Ser89Asn",
"transcript": "XM_017018125.2",
"protein_id": "XP_016873614.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 145,
"cds_start": 266,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001330275.1",
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"effects": [
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}