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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: 12-68654206-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68654206&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68654206,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015646.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "NM_001010942.3",
"protein_id": "NP_001010942.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000250559.14",
"protein_id": "ENSP00000250559.9",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000393436.9",
"protein_id": "ENSP00000377085.5",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000541216.1",
"protein_id": "ENSP00000443851.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 179,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "NM_015646.6",
"protein_id": "NP_056461.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000341355.9",
"protein_id": "ENSP00000441275.1",
"transcript_support_level": 3,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000537460.5",
"protein_id": "ENSP00000439966.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877913.1",
"protein_id": "ENSP00000547972.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877914.1",
"protein_id": "ENSP00000547973.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877915.1",
"protein_id": "ENSP00000547974.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877916.1",
"protein_id": "ENSP00000547975.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877917.1",
"protein_id": "ENSP00000547976.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877919.1",
"protein_id": "ENSP00000547978.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877920.1",
"protein_id": "ENSP00000547979.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877921.1",
"protein_id": "ENSP00000547980.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"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.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000877922.1",
"protein_id": "ENSP00000547981.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000934200.1",
"protein_id": "ENSP00000604259.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000934202.1",
"protein_id": "ENSP00000604261.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000954494.1",
"protein_id": "ENSP00000624553.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000954495.1",
"protein_id": "ENSP00000624554.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000954497.1",
"protein_id": "ENSP00000624556.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"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": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1B",
"gene_hgnc_id": 9857,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Leu93Ser",
"transcript": "ENST00000954498.1",
"protein_id": "ENSP00000624557.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 184,
"cds_start": 278,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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],
"gene_symbol": "RAP1B",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9574083089828491,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.928,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_015646.6",
"gene_symbol": "RAP1B",
"hgnc_id": 9857,
"effects": [
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}