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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: 2-65313860-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=65313860&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 65313860,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_181784.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Trp",
"transcript": "NM_181784.3",
"protein_id": "NP_861449.2",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 418,
"cds_start": 898,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "ENST00000356388.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181784.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Trp",
"transcript": "ENST00000356388.9",
"protein_id": "ENSP00000348753.4",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 418,
"cds_start": 898,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": "NM_181784.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356388.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.943C>T",
"hgvs_p": "p.Arg315Trp",
"transcript": "ENST00000452315.5",
"protein_id": "ENSP00000390595.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 431,
"cds_start": 943,
"cds_end": null,
"cds_length": 1298,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452315.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Trp",
"transcript": "NM_001128210.2",
"protein_id": "NP_001121682.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 415,
"cds_start": 889,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128210.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Trp",
"transcript": "ENST00000443619.6",
"protein_id": "ENSP00000393697.2",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 415,
"cds_start": 889,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443619.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222Trp",
"transcript": "ENST00000931351.1",
"protein_id": "ENSP00000601410.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 340,
"cds_start": 664,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931351.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Trp",
"transcript": "ENST00000421087.5",
"protein_id": "ENSP00000407627.1",
"transcript_support_level": 3,
"aa_start": 182,
"aa_end": null,
"aa_length": 232,
"cds_start": 544,
"cds_end": null,
"cds_length": 701,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421087.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Trp",
"transcript": "XM_047443709.1",
"protein_id": "XP_047299665.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 398,
"cds_start": 838,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 6555,
"cdna_end": null,
"cdna_length": 9564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443709.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Trp",
"transcript": "XM_017003576.2",
"protein_id": "XP_016859065.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 295,
"cds_start": 529,
"cds_end": null,
"cds_length": 888,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003576.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "XM_047443711.1",
"protein_id": "XP_047299667.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 221,
"cds_start": 307,
"cds_end": null,
"cds_length": 666,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.588+2874C>T",
"hgvs_p": null,
"transcript": "XM_005264200.6",
"protein_id": "XP_005264257.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264200.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.579+2874C>T",
"hgvs_p": null,
"transcript": "XM_047443710.1",
"protein_id": "XP_047299666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.588+2874C>T",
"hgvs_p": null,
"transcript": "XM_005264202.6",
"protein_id": "XP_005264259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264202.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "c.579+2874C>T",
"hgvs_p": null,
"transcript": "XM_047443712.1",
"protein_id": "XP_047299668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "n.*731C>T",
"hgvs_p": null,
"transcript": "ENST00000426832.2",
"protein_id": "ENSP00000414551.2",
"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": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426832.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"hgvs_c": "n.*731C>T",
"hgvs_p": null,
"transcript": "ENST00000426832.2",
"protein_id": "ENSP00000414551.2",
"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": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426832.2"
}
],
"gene_symbol": "SPRED2",
"gene_hgnc_id": 17722,
"dbsnp": "rs1299658940",
"frequency_reference_population": 0.0000061707997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.0000061708,
"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": 0.5909192562103271,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.452,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.29,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181784.3",
"gene_symbol": "SPRED2",
"hgnc_id": 17722,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Trp"
}
],
"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
}