← Back to variant description
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: 11-14513633-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=14513633&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 14513633,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_148976.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Ile161Val",
"transcript": "NM_002786.4",
"protein_id": "NP_002777.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 263,
"cds_start": 481,
"cds_end": null,
"cds_length": 792,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": "ENST00000396394.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002786.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Ile161Val",
"transcript": "ENST00000396394.7",
"protein_id": "ENSP00000379676.2",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 263,
"cds_start": 481,
"cds_end": null,
"cds_length": 792,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1195,
"mane_select": "NM_002786.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396394.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Ile167Val",
"transcript": "ENST00000418988.2",
"protein_id": "ENSP00000414359.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 269,
"cds_start": 499,
"cds_end": null,
"cds_length": 810,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418988.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256206",
"gene_hgnc_id": null,
"hgvs_c": "n.423A>G",
"hgvs_p": null,
"transcript": "ENST00000555531.1",
"protein_id": "ENSP00000457299.1",
"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": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555531.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Ile161Val",
"transcript": "ENST00000873423.1",
"protein_id": "ENSP00000543482.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 303,
"cds_start": 481,
"cds_end": null,
"cds_length": 912,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873423.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Ile161Val",
"transcript": "ENST00000873425.1",
"protein_id": "ENSP00000543484.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 275,
"cds_start": 481,
"cds_end": null,
"cds_length": 828,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873425.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Ile167Val",
"transcript": "NM_148976.3",
"protein_id": "NP_683877.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 269,
"cds_start": 499,
"cds_end": null,
"cds_length": 810,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148976.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Ile161Val",
"transcript": "ENST00000718310.1",
"protein_id": "ENSP00000520747.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 263,
"cds_start": 481,
"cds_end": null,
"cds_length": 792,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718310.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.406A>G",
"hgvs_p": "p.Ile136Val",
"transcript": "ENST00000530457.5",
"protein_id": "ENSP00000441166.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 406,
"cds_end": null,
"cds_length": 717,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530457.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.481A>G",
"hgvs_p": "p.Ile161Val",
"transcript": "ENST00000873420.1",
"protein_id": "ENSP00000543480.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 226,
"cds_start": 481,
"cds_end": null,
"cds_length": 681,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873420.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.367A>G",
"hgvs_p": "p.Ile123Val",
"transcript": "ENST00000873422.1",
"protein_id": "ENSP00000543481.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 225,
"cds_start": 367,
"cds_end": null,
"cds_length": 678,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873422.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.352A>G",
"hgvs_p": "p.Ile118Val",
"transcript": "ENST00000873424.1",
"protein_id": "ENSP00000543483.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 220,
"cds_start": 352,
"cds_end": null,
"cds_length": 663,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873424.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.217A>G",
"hgvs_p": "p.Ile73Val",
"transcript": "ENST00000965886.1",
"protein_id": "ENSP00000635945.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 175,
"cds_start": 217,
"cds_end": null,
"cds_length": 528,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965886.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.70A>G",
"hgvs_p": "p.Ile24Val",
"transcript": "ENST00000930532.1",
"protein_id": "ENSP00000600591.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 126,
"cds_start": 70,
"cds_end": null,
"cds_length": 381,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930532.1"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.344-330A>G",
"hgvs_p": null,
"transcript": "ENST00000965885.1",
"protein_id": "ENSP00000635944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965885.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "c.343+770A>G",
"hgvs_p": null,
"transcript": "ENST00000873426.1",
"protein_id": "ENSP00000543485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873426.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "n.370A>G",
"hgvs_p": null,
"transcript": "ENST00000527632.1",
"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": 693,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "n.544A>G",
"hgvs_p": null,
"transcript": "ENST00000531023.2",
"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": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000531023.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "n.402A>G",
"hgvs_p": null,
"transcript": "ENST00000533331.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533331.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "n.989+184A>G",
"hgvs_p": null,
"transcript": "ENST00000528307.5",
"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": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528307.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"hgvs_c": "n.*31A>G",
"hgvs_p": null,
"transcript": "ENST00000529524.1",
"protein_id": null,
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000529524.1"
}
],
"gene_symbol": "PSMA1",
"gene_hgnc_id": 9530,
"dbsnp": "rs1230554670",
"frequency_reference_population": 0.000002076892,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000207689,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5996195673942566,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.373,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2035,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.14,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_148976.3",
"gene_symbol": "PSMA1",
"hgnc_id": 9530,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.499A>G",
"hgvs_p": "p.Ile167Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555531.1",
"gene_symbol": "ENSG00000256206",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.423A>G",
"hgvs_p": null
}
],
"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
}