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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: 5-74796084-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74796084&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 74796084,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015566.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "NM_001376049.1",
"protein_id": "NP_001362978.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000687041.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376049.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000687041.1",
"protein_id": "ENSP00000508577.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376049.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687041.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000389156.9",
"protein_id": "ENSP00000373808.4",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389156.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "n.*650T>A",
"hgvs_p": null,
"transcript": "ENST00000510609.5",
"protein_id": "ENSP00000423905.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000510609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "n.*650T>A",
"hgvs_p": null,
"transcript": "ENST00000514215.5",
"protein_id": "ENSP00000425319.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000514215.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "n.*650T>A",
"hgvs_p": null,
"transcript": "ENST00000510609.5",
"protein_id": "ENSP00000423905.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000510609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "n.*650T>A",
"hgvs_p": null,
"transcript": "ENST00000514215.5",
"protein_id": "ENSP00000425319.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000514215.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1230T>A",
"hgvs_p": "p.Asp410Glu",
"transcript": "ENST00000880931.1",
"protein_id": "ENSP00000550990.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 678,
"cds_start": 1230,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880931.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1230T>A",
"hgvs_p": "p.Asp410Glu",
"transcript": "ENST00000880932.1",
"protein_id": "ENSP00000550991.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 678,
"cds_start": 1230,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880932.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "NM_001376050.1",
"protein_id": "NP_001362979.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376050.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "NM_001376051.1",
"protein_id": "NP_001362980.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376051.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "NM_001376052.1",
"protein_id": "NP_001362981.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376052.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "NM_015566.3",
"protein_id": "NP_056381.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015566.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000880933.1",
"protein_id": "ENSP00000550992.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880933.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000880934.1",
"protein_id": "ENSP00000550993.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880934.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000921749.1",
"protein_id": "ENSP00000591808.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921749.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000921753.1",
"protein_id": "ENSP00000591812.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921753.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000921754.1",
"protein_id": "ENSP00000591813.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921754.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000921755.1",
"protein_id": "ENSP00000591814.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921755.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1206T>A",
"hgvs_p": "p.Asp402Glu",
"transcript": "ENST00000941597.1",
"protein_id": "ENSP00000611656.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 670,
"cds_start": 1206,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941597.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1026T>A",
"hgvs_p": "p.Asp342Glu",
"transcript": "ENST00000510496.5",
"protein_id": "ENSP00000424578.1",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 610,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510496.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.1026T>A",
"hgvs_p": "p.Asp342Glu",
"transcript": "ENST00000921751.1",
"protein_id": "ENSP00000591810.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 610,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
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{
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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
}