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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: 7-29923979-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29923979&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29923979,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145514.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "NM_014766.5",
"protein_id": "NP_055581.3",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": "ENST00000242059.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014766.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "ENST00000242059.10",
"protein_id": "ENSP00000242059.5",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": "NM_014766.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242059.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Thr428Met",
"transcript": "NM_001145514.1",
"protein_id": "NP_001138986.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 434,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145514.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Thr428Met",
"transcript": "ENST00000434476.6",
"protein_id": "ENSP00000388942.1",
"transcript_support_level": 2,
"aa_start": 428,
"aa_end": null,
"aa_length": 434,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434476.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "NM_001145513.1",
"protein_id": "NP_001138985.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 5276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145513.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "ENST00000409497.5",
"protein_id": "ENSP00000386872.1",
"transcript_support_level": 2,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409497.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "ENST00000426154.5",
"protein_id": "ENSP00000409068.1",
"transcript_support_level": 5,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426154.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "ENST00000866205.1",
"protein_id": "ENSP00000536264.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 5211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866205.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "ENST00000866207.1",
"protein_id": "ENSP00000536266.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 5471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866207.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "ENST00000866209.1",
"protein_id": "ENSP00000536268.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866209.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "ENST00000866210.1",
"protein_id": "ENSP00000536269.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 5282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866210.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1223C>T",
"hgvs_p": "p.Thr408Met",
"transcript": "ENST00000866211.1",
"protein_id": "ENSP00000536270.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866211.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1220C>T",
"hgvs_p": "p.Thr407Met",
"transcript": "ENST00000955921.1",
"protein_id": "ENSP00000625980.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 413,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955921.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1118C>T",
"hgvs_p": "p.Thr373Met",
"transcript": "ENST00000866206.1",
"protein_id": "ENSP00000536265.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 379,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866206.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1028C>T",
"hgvs_p": "p.Thr343Met",
"transcript": "ENST00000866208.1",
"protein_id": "ENSP00000536267.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 349,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866208.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Thr340Met",
"transcript": "NM_001145515.2",
"protein_id": "NP_001138987.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 346,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145515.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Thr340Met",
"transcript": "ENST00000425819.6",
"protein_id": "ENSP00000414245.2",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 346,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425819.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Thr340Met",
"transcript": "XM_047421085.1",
"protein_id": "XP_047277041.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 346,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 5024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421085.1"
}
],
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"dbsnp": "rs193920979",
"frequency_reference_population": 0.0000037190944,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342203,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.501061737537384,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.302,
"phylop100way_prediction": "Pathogenic",
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145514.1",
"gene_symbol": "SCRN1",
"hgnc_id": 22192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Thr428Met"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}