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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: 7-29924006-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29924006&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 29924006,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001145514.1",
"consequences": [
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "NM_014766.5",
"protein_id": "NP_055581.3",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242059.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014766.5"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000242059.10",
"protein_id": "ENSP00000242059.5",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014766.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242059.10"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Gly419Ala",
"transcript": "NM_001145514.1",
"protein_id": "NP_001138986.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 434,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145514.1"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Gly419Ala",
"transcript": "ENST00000434476.6",
"protein_id": "ENSP00000388942.1",
"transcript_support_level": 2,
"aa_start": 419,
"aa_end": null,
"aa_length": 434,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434476.6"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "NM_001145513.1",
"protein_id": "NP_001138985.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145513.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000409497.5",
"protein_id": "ENSP00000386872.1",
"transcript_support_level": 2,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409497.5"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000426154.5",
"protein_id": "ENSP00000409068.1",
"transcript_support_level": 5,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426154.5"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000866205.1",
"protein_id": "ENSP00000536264.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866205.1"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000866207.1",
"protein_id": "ENSP00000536266.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866207.1"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000866209.1",
"protein_id": "ENSP00000536268.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866209.1"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000866210.1",
"protein_id": "ENSP00000536269.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866210.1"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1196G>C",
"hgvs_p": "p.Gly399Ala",
"transcript": "ENST00000866211.1",
"protein_id": "ENSP00000536270.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 414,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866211.1"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Gly398Ala",
"transcript": "ENST00000955921.1",
"protein_id": "ENSP00000625980.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 413,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955921.1"
},
{
"aa_ref": "G",
"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": "SCRN1",
"gene_hgnc_id": 22192,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "ENST00000866206.1",
"protein_id": "ENSP00000536265.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 379,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866206.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.1001G>C",
"hgvs_p": "p.Gly334Ala",
"transcript": "ENST00000866208.1",
"protein_id": "ENSP00000536267.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 349,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866208.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.992G>C",
"hgvs_p": "p.Gly331Ala",
"transcript": "NM_001145515.2",
"protein_id": "NP_001138987.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 346,
"cds_start": 992,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145515.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.992G>C",
"hgvs_p": "p.Gly331Ala",
"transcript": "ENST00000425819.6",
"protein_id": "ENSP00000414245.2",
"transcript_support_level": 2,
"aa_start": 331,
"aa_end": null,
"aa_length": 346,
"cds_start": 992,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425819.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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.992G>C",
"hgvs_p": "p.Gly331Ala",
"transcript": "XM_047421085.1",
"protein_id": "XP_047277041.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 346,
"cds_start": 992,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421085.1"
}
],
"gene_symbol": "SCRN1",
"gene_hgnc_id": 22192,
"dbsnp": "rs758651415",
"frequency_reference_population": 0.0000340778,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000369412,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.044367074966430664,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0646,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.401,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001145514.1",
"gene_symbol": "SCRN1",
"hgnc_id": 22192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1256G>C",
"hgvs_p": "p.Gly419Ala"
}
],
"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
}