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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: 12-6975298-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6975298&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6975298,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006331.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Pro181Ser",
"transcript": "NM_006331.8",
"protein_id": "NP_006322.4",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 244,
"cds_start": 541,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000599672.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006331.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Pro181Ser",
"transcript": "ENST00000599672.6",
"protein_id": "ENSP00000470560.1",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 244,
"cds_start": 541,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006331.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599672.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290146",
"gene_hgnc_id": null,
"hgvs_c": "n.544C>T",
"hgvs_p": null,
"transcript": "ENST00000607161.5",
"protein_id": "ENSP00000480420.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607161.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Pro219Ser",
"transcript": "ENST00000960685.1",
"protein_id": "ENSP00000630744.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 282,
"cds_start": 655,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960685.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "ENST00000925393.1",
"protein_id": "ENSP00000595452.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 253,
"cds_start": 568,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925393.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Pro182Ser",
"transcript": "ENST00000925391.1",
"protein_id": "ENSP00000595450.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 245,
"cds_start": 544,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925391.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Pro179Ser",
"transcript": "ENST00000925392.1",
"protein_id": "ENSP00000595451.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 242,
"cds_start": 535,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925392.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Pro178Ser",
"transcript": "ENST00000925395.1",
"protein_id": "ENSP00000595454.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 241,
"cds_start": 532,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925395.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Pro181Ser",
"transcript": "ENST00000925394.1",
"protein_id": "ENSP00000595453.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 236,
"cds_start": 541,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925394.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Pro170Ser",
"transcript": "ENST00000925398.1",
"protein_id": "ENSP00000595457.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 233,
"cds_start": 508,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925398.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Pro164Ser",
"transcript": "ENST00000960686.1",
"protein_id": "ENSP00000630745.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 227,
"cds_start": 490,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960686.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Pro181Ser",
"transcript": "ENST00000925397.1",
"protein_id": "ENSP00000595456.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 222,
"cds_start": 541,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925397.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Pro147Ser",
"transcript": "ENST00000925396.1",
"protein_id": "ENSP00000595455.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 210,
"cds_start": 439,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925396.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.471+150C>T",
"hgvs_p": null,
"transcript": "NM_001320049.2",
"protein_id": "NP_001306978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320049.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.333+150C>T",
"hgvs_p": null,
"transcript": "ENST00000539196.2",
"protein_id": "ENSP00000479546.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539196.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290146",
"gene_hgnc_id": null,
"hgvs_c": "n.523C>T",
"hgvs_p": null,
"transcript": "ENST00000261406.7",
"protein_id": "ENSP00000476966.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000261406.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "n.948C>T",
"hgvs_p": null,
"transcript": "ENST00000611981.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000611981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "n.552C>T",
"hgvs_p": null,
"transcript": "NR_135131.2",
"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_135131.2"
}
],
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"dbsnp": "rs1946380787",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09836316108703613,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1129,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.342,
"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_006331.8",
"gene_symbol": "EMG1",
"hgnc_id": 16912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Pro181Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000607161.5",
"gene_symbol": "ENSG00000290146",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.544C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}