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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: 9-124353666-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=124353666&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 124353666,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002799.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Thr256Ala",
"transcript": "NM_002799.4",
"protein_id": "NP_002790.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 277,
"cds_start": 766,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259457.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002799.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Thr256Ala",
"transcript": "ENST00000259457.8",
"protein_id": "ENSP00000259457.3",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 277,
"cds_start": 766,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002799.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259457.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.898A>G",
"hgvs_p": "p.Thr300Ala",
"transcript": "ENST00000916860.1",
"protein_id": "ENSP00000586919.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 321,
"cds_start": 898,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916860.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.886A>G",
"hgvs_p": "p.Thr296Ala",
"transcript": "ENST00000894504.1",
"protein_id": "ENSP00000564563.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 317,
"cds_start": 886,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894504.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Thr292Ala",
"transcript": "ENST00000916861.1",
"protein_id": "ENSP00000586920.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 313,
"cds_start": 874,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916861.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.763A>G",
"hgvs_p": "p.Thr255Ala",
"transcript": "ENST00000894503.1",
"protein_id": "ENSP00000564562.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 276,
"cds_start": 763,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894503.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.760A>G",
"hgvs_p": "p.Thr254Ala",
"transcript": "ENST00000916856.1",
"protein_id": "ENSP00000586915.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 275,
"cds_start": 760,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916856.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Thr251Ala",
"transcript": "ENST00000916857.1",
"protein_id": "ENSP00000586916.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 272,
"cds_start": 751,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916857.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Thr242Ala",
"transcript": "ENST00000916859.1",
"protein_id": "ENSP00000586918.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 263,
"cds_start": 724,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916859.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Thr241Ala",
"transcript": "ENST00000894502.1",
"protein_id": "ENSP00000564561.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 262,
"cds_start": 721,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894502.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Thr142Ala",
"transcript": "ENST00000916858.1",
"protein_id": "ENSP00000586917.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 163,
"cds_start": 424,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"hgvs_c": "n.767A>G",
"hgvs_p": null,
"transcript": "ENST00000498485.5",
"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": "pseudogene",
"feature": "ENST00000498485.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC100129034",
"gene_hgnc_id": null,
"hgvs_c": "n.194T>C",
"hgvs_p": null,
"transcript": "NR_027406.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_027406.1"
}
],
"gene_symbol": "PSMB7",
"gene_hgnc_id": 9544,
"dbsnp": "rs760331379",
"frequency_reference_population": 0.000027262104,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000294162,
"gnomad_genomes_af": 0.00000657108,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1352134346961975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0776,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.019,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002799.4",
"gene_symbol": "PSMB7",
"hgnc_id": 9544,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Thr256Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_027406.1",
"gene_symbol": "LOC100129034",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.194T>C",
"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
}