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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: 12-68652046-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68652046&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68652046,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015646.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "NM_001010942.3",
"protein_id": "NP_001010942.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250559.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010942.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000250559.14",
"protein_id": "ENSP00000250559.9",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010942.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250559.14"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000393436.9",
"protein_id": "ENSP00000377085.5",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393436.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000541216.1",
"protein_id": "ENSP00000443851.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 179,
"cds_start": 178,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541216.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "NM_015646.6",
"protein_id": "NP_056461.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015646.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000341355.9",
"protein_id": "ENSP00000441275.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341355.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000537460.5",
"protein_id": "ENSP00000439966.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537460.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877913.1",
"protein_id": "ENSP00000547972.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877913.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877914.1",
"protein_id": "ENSP00000547973.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877914.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877915.1",
"protein_id": "ENSP00000547974.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877915.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877916.1",
"protein_id": "ENSP00000547975.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877916.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877917.1",
"protein_id": "ENSP00000547976.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877917.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877919.1",
"protein_id": "ENSP00000547978.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877919.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877920.1",
"protein_id": "ENSP00000547979.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877920.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877921.1",
"protein_id": "ENSP00000547980.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877921.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000877922.1",
"protein_id": "ENSP00000547981.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877922.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000934200.1",
"protein_id": "ENSP00000604259.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934200.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000934202.1",
"protein_id": "ENSP00000604261.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934202.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000954494.1",
"protein_id": "ENSP00000624553.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954494.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000954495.1",
"protein_id": "ENSP00000624554.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954495.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000954497.1",
"protein_id": "ENSP00000624556.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954497.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.178G>C",
"hgvs_p": "p.Gly60Arg",
"transcript": "ENST00000954498.1",
"protein_id": "ENSP00000624557.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 184,
"cds_start": 178,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954498.1"
},
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}