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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: 7-135648501-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=135648501&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 135648501,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015135.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5984T>C",
"hgvs_p": "p.Phe1995Ser",
"transcript": "NM_015135.3",
"protein_id": "NP_055950.2",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2012,
"cds_start": 5984,
"cds_end": null,
"cds_length": 6039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285968.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015135.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5984T>C",
"hgvs_p": "p.Phe1995Ser",
"transcript": "ENST00000285968.11",
"protein_id": "ENSP00000285968.6",
"transcript_support_level": 1,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2012,
"cds_start": 5984,
"cds_end": null,
"cds_length": 6039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015135.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285968.11"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.6080T>C",
"hgvs_p": "p.Phe2027Ser",
"transcript": "ENST00000921555.1",
"protein_id": "ENSP00000591614.1",
"transcript_support_level": null,
"aa_start": 2027,
"aa_end": null,
"aa_length": 2044,
"cds_start": 6080,
"cds_end": null,
"cds_length": 6135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921555.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.6068T>C",
"hgvs_p": "p.Phe2023Ser",
"transcript": "ENST00000921547.1",
"protein_id": "ENSP00000591606.1",
"transcript_support_level": null,
"aa_start": 2023,
"aa_end": null,
"aa_length": 2040,
"cds_start": 6068,
"cds_end": null,
"cds_length": 6123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921547.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.6017T>C",
"hgvs_p": "p.Phe2006Ser",
"transcript": "ENST00000921556.1",
"protein_id": "ENSP00000591615.1",
"transcript_support_level": null,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2023,
"cds_start": 6017,
"cds_end": null,
"cds_length": 6072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921556.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5999T>C",
"hgvs_p": "p.Phe2000Ser",
"transcript": "ENST00000888395.1",
"protein_id": "ENSP00000558455.1",
"transcript_support_level": null,
"aa_start": 2000,
"aa_end": null,
"aa_length": 2017,
"cds_start": 5999,
"cds_end": null,
"cds_length": 6054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888395.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5903T>C",
"hgvs_p": "p.Phe1968Ser",
"transcript": "ENST00000921554.1",
"protein_id": "ENSP00000591613.1",
"transcript_support_level": null,
"aa_start": 1968,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5903,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921554.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5900T>C",
"hgvs_p": "p.Phe1967Ser",
"transcript": "ENST00000921552.1",
"protein_id": "ENSP00000591611.1",
"transcript_support_level": null,
"aa_start": 1967,
"aa_end": null,
"aa_length": 1984,
"cds_start": 5900,
"cds_end": null,
"cds_length": 5955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921552.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5855T>C",
"hgvs_p": "p.Phe1952Ser",
"transcript": "ENST00000921553.1",
"protein_id": "ENSP00000591612.1",
"transcript_support_level": null,
"aa_start": 1952,
"aa_end": null,
"aa_length": 1969,
"cds_start": 5855,
"cds_end": null,
"cds_length": 5910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921553.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5774T>C",
"hgvs_p": "p.Phe1925Ser",
"transcript": "ENST00000921548.1",
"protein_id": "ENSP00000591607.1",
"transcript_support_level": null,
"aa_start": 1925,
"aa_end": null,
"aa_length": 1942,
"cds_start": 5774,
"cds_end": null,
"cds_length": 5829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921548.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5723T>C",
"hgvs_p": "p.Phe1908Ser",
"transcript": "ENST00000921550.1",
"protein_id": "ENSP00000591609.1",
"transcript_support_level": null,
"aa_start": 1908,
"aa_end": null,
"aa_length": 1925,
"cds_start": 5723,
"cds_end": null,
"cds_length": 5778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921550.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.5657T>C",
"hgvs_p": "p.Phe1886Ser",
"transcript": "ENST00000921549.1",
"protein_id": "ENSP00000591608.1",
"transcript_support_level": null,
"aa_start": 1886,
"aa_end": null,
"aa_length": 1903,
"cds_start": 5657,
"cds_end": null,
"cds_length": 5712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921549.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.4910T>C",
"hgvs_p": "p.Phe1637Ser",
"transcript": "NM_001329434.2",
"protein_id": "NP_001316363.2",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4910,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329434.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Phe107Ser",
"transcript": "ENST00000921551.1",
"protein_id": "ENSP00000591610.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 124,
"cds_start": 320,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921551.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "n.1191T>C",
"hgvs_p": null,
"transcript": "ENST00000461255.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000461255.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "n.*756T>C",
"hgvs_p": null,
"transcript": "ENST00000477620.5",
"protein_id": "ENSP00000475318.1",
"transcript_support_level": 5,
"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": "ENST00000477620.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "n.*301T>C",
"hgvs_p": null,
"transcript": "ENST00000490439.1",
"protein_id": "ENSP00000475877.1",
"transcript_support_level": 3,
"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": "ENST00000490439.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "n.305T>C",
"hgvs_p": null,
"transcript": "ENST00000491089.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000491089.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "n.4262T>C",
"hgvs_p": null,
"transcript": "ENST00000607647.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000607647.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "n.*756T>C",
"hgvs_p": null,
"transcript": "ENST00000477620.5",
"protein_id": "ENSP00000475318.1",
"transcript_support_level": 5,
"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": "ENST00000477620.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"hgvs_c": "n.*301T>C",
"hgvs_p": null,
"transcript": "ENST00000490439.1",
"protein_id": "ENSP00000475877.1",
"transcript_support_level": 3,
"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": "ENST00000490439.1"
}
],
"gene_symbol": "NUP205",
"gene_hgnc_id": 18658,
"dbsnp": "rs869312984",
"frequency_reference_population": 0.0000061928454,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000619285,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8126001358032227,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.661,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9776,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.955,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PP5",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015135.3",
"gene_symbol": "NUP205",
"hgnc_id": 18658,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5984T>C",
"hgvs_p": "p.Phe1995Ser"
}
],
"clinvar_disease": " type 13,Nephrotic syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Nephrotic syndrome, type 13",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}