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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: 11-116837053-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116837053&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 116837053,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000039.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "NM_000039.3",
"protein_id": "NP_000030.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000236850.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000039.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000236850.5",
"protein_id": "ENSP00000236850.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000039.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236850.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000375323.5",
"protein_id": "ENSP00000364472.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375323.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855312.1",
"protein_id": "ENSP00000525371.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 278,
"cds_start": 148,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855312.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "NM_001318017.2",
"protein_id": "NP_001304946.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318017.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "NM_001318018.2",
"protein_id": "NP_001304947.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318018.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "NM_001425090.1",
"protein_id": "NP_001412019.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425090.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000359492.6",
"protein_id": "ENSP00000352471.2",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359492.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000375320.5",
"protein_id": "ENSP00000364469.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375320.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855297.1",
"protein_id": "ENSP00000525356.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855297.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855298.1",
"protein_id": "ENSP00000525357.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855298.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855299.1",
"protein_id": "ENSP00000525358.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855299.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855300.1",
"protein_id": "ENSP00000525359.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855300.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855304.1",
"protein_id": "ENSP00000525363.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855304.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855308.1",
"protein_id": "ENSP00000525367.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855308.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855310.1",
"protein_id": "ENSP00000525369.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855310.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855311.1",
"protein_id": "ENSP00000525370.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855311.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855315.1",
"protein_id": "ENSP00000525374.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855315.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855318.1",
"protein_id": "ENSP00000525377.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855318.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855320.1",
"protein_id": "ENSP00000525379.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855320.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855321.1",
"protein_id": "ENSP00000525380.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 267,
"cds_start": 148,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855321.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "APOA1",
"gene_hgnc_id": 600,
"hgvs_c": "c.148G>C",
"hgvs_p": "p.Gly50Arg",
"transcript": "ENST00000855307.1",
"protein_id": "ENSP00000525366.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 258,
"cds_start": 148,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855307.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Familial amyloid polyneuropathy, Iowa type|not provided|Hypoalphalipoproteinemia, primary, 2;Hypoalphalipoproteinemia, primary, 2, intermediate;Familial amyloid polyneuropathy, Iowa type|Familial visceral amyloidosis, Ostertag type",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}