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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: 11-76659654-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76659654&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 76659654,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005512.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "NM_001128922.2",
"protein_id": "NP_001122394.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260061.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128922.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000260061.9",
"protein_id": "ENSP00000260061.5",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128922.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260061.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000407242.6",
"protein_id": "ENSP00000384126.2",
"transcript_support_level": 1,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407242.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32-AS1",
"gene_hgnc_id": 58233,
"hgvs_c": "n.220C>A",
"hgvs_p": null,
"transcript": "ENST00000447519.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000447519.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1966G>T",
"hgvs_p": "p.Ala656Ser",
"transcript": "ENST00000858024.1",
"protein_id": "ENSP00000528083.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 671,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858024.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "NM_001370187.1",
"protein_id": "NP_001357116.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370187.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "NM_001370188.1",
"protein_id": "NP_001357117.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370188.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "NM_005512.3",
"protein_id": "NP_005503.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005512.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000404995.5",
"protein_id": "ENSP00000385766.1",
"transcript_support_level": 5,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404995.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000858025.1",
"protein_id": "ENSP00000528084.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858025.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000957909.1",
"protein_id": "ENSP00000627968.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957909.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000957910.1",
"protein_id": "ENSP00000627969.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957910.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000957911.1",
"protein_id": "ENSP00000627970.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957911.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "ENST00000957912.1",
"protein_id": "ENSP00000627971.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957912.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1873G>T",
"hgvs_p": "p.Ala625Ser",
"transcript": "NM_001370189.1",
"protein_id": "NP_001357118.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 640,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370189.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1609G>T",
"hgvs_p": "p.Ala537Ser",
"transcript": "NM_001370190.1",
"protein_id": "NP_001357119.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 552,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370190.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser",
"transcript": "XM_011544935.4",
"protein_id": "XP_011543237.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 662,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544935.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.1873G>T",
"hgvs_p": "p.Ala625Ser",
"transcript": "XM_047426743.1",
"protein_id": "XP_047282699.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 640,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "c.85-1620G>T",
"hgvs_p": null,
"transcript": "NM_001370191.1",
"protein_id": "NP_001357120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32-AS1",
"gene_hgnc_id": 58233,
"hgvs_c": "n.110C>A",
"hgvs_p": null,
"transcript": "ENST00000702833.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000702833.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32",
"gene_hgnc_id": 4161,
"hgvs_c": "n.2120G>T",
"hgvs_p": null,
"transcript": "NR_163259.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_163259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC32-AS1",
"gene_hgnc_id": 58233,
"hgvs_c": "n.208C>A",
"hgvs_p": null,
"transcript": "NR_199061.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_199061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "LRRC32",
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"transcript": "ENST00000464145.1",
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"biotype": "pseudogene",
"feature": "ENST00000464145.1"
}
],
"gene_symbol": "LRRC32",
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"dbsnp": "rs151020278",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05567425489425659,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.15,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005512.3",
"gene_symbol": "LRRC32",
"hgnc_id": 4161,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Ala647Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000447519.2",
"gene_symbol": "LRRC32-AS1",
"hgnc_id": 58233,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.220C>A",
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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
}