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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: 4-56919853-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=56919853&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 56919853,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005612.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "NM_005612.5",
"protein_id": "NP_005603.3",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309042.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005612.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000309042.12",
"protein_id": "ENSP00000311816.7",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005612.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309042.12"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000514063.2",
"protein_id": "ENSP00000501649.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 965,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514063.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000619101.5",
"protein_id": "ENSP00000484836.2",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 965,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619101.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000640343.2",
"protein_id": "ENSP00000492813.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 335,
"cds_start": 965,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640343.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.His190Arg",
"transcript": "ENST00000622863.4",
"protein_id": "ENSP00000481650.1",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 314,
"cds_start": 569,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622863.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.898+8317A>G",
"hgvs_p": null,
"transcript": "ENST00000640168.2",
"protein_id": "ENSP00000490969.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640168.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "n.965A>G",
"hgvs_p": null,
"transcript": "ENST00000611211.2",
"protein_id": "ENSP00000479151.2",
"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": "ENST00000611211.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "NM_001193508.2",
"protein_id": "NP_001180437.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193508.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "NM_001363453.3",
"protein_id": "NP_001350382.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363453.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000675105.1",
"protein_id": "ENSP00000502313.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675105.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000878529.1",
"protein_id": "ENSP00000548588.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878529.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000931527.1",
"protein_id": "ENSP00000601586.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931527.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000931528.1",
"protein_id": "ENSP00000601587.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931528.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000931529.1",
"protein_id": "ENSP00000601588.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931529.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000931530.1",
"protein_id": "ENSP00000601589.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 1097,
"cds_start": 965,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931530.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.518A>G",
"hgvs_p": "p.His173Arg",
"transcript": "ENST00000675341.1",
"protein_id": "ENSP00000502488.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 948,
"cds_start": 518,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675341.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg",
"transcript": "ENST00000616975.5",
"protein_id": "ENSP00000484058.1",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 340,
"cds_start": 965,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616975.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.898+8317A>G",
"hgvs_p": null,
"transcript": "NM_001440532.1",
"protein_id": "NP_001427461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": null,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.898+8317A>G",
"hgvs_p": null,
"transcript": "NM_001440533.1",
"protein_id": "NP_001427462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": null,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440533.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.898+8317A>G",
"hgvs_p": null,
"transcript": "ENST00000638187.2",
"protein_id": "ENSP00000492006.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": null,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638187.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"hgvs_c": "c.898+8317A>G",
"hgvs_p": null,
"transcript": "ENST00000946695.1",
"protein_id": "ENSP00000616754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": null,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946695.1"
}
],
"gene_symbol": "REST",
"gene_hgnc_id": 9966,
"dbsnp": "rs869025312",
"frequency_reference_population": 0.000006570216,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9404913187026978,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.926,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.929,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.11,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005612.5",
"gene_symbol": "REST",
"hgnc_id": 9966,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.965A>G",
"hgvs_p": "p.His322Arg"
}
],
"clinvar_disease": "Wilms tumor 6",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Wilms tumor 6",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}