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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: 12-6971049-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6971049&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6971049,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006331.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "NM_006331.8",
"protein_id": "NP_006322.4",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 244,
"cds_start": 126,
"cds_end": null,
"cds_length": 735,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": "ENST00000599672.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006331.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000599672.6",
"protein_id": "ENSP00000470560.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 244,
"cds_start": 126,
"cds_end": null,
"cds_length": 735,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 4873,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290146",
"gene_hgnc_id": null,
"hgvs_c": "n.129G>C",
"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": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607161.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000960685.1",
"protein_id": "ENSP00000630744.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 282,
"cds_start": 126,
"cds_end": null,
"cds_length": 849,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960685.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000925393.1",
"protein_id": "ENSP00000595452.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 253,
"cds_start": 126,
"cds_end": null,
"cds_length": 762,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925393.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000925391.1",
"protein_id": "ENSP00000595450.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 245,
"cds_start": 126,
"cds_end": null,
"cds_length": 738,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925391.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000925392.1",
"protein_id": "ENSP00000595451.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 242,
"cds_start": 126,
"cds_end": null,
"cds_length": 729,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925392.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000925395.1",
"protein_id": "ENSP00000595454.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 241,
"cds_start": 126,
"cds_end": null,
"cds_length": 726,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925395.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000925394.1",
"protein_id": "ENSP00000595453.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 236,
"cds_start": 126,
"cds_end": null,
"cds_length": 711,
"cdna_start": 152,
"cdna_end": null,
"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925394.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000925398.1",
"protein_id": "ENSP00000595457.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 233,
"cds_start": 126,
"cds_end": null,
"cds_length": 702,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925398.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000960686.1",
"protein_id": "ENSP00000630745.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 227,
"cds_start": 126,
"cds_end": null,
"cds_length": 684,
"cdna_start": 133,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960686.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000925397.1",
"protein_id": "ENSP00000595456.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 222,
"cds_start": 126,
"cds_end": null,
"cds_length": 669,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925397.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "ENST00000925396.1",
"protein_id": "ENSP00000595455.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 210,
"cds_start": 126,
"cds_end": null,
"cds_length": 633,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925396.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser",
"transcript": "NM_001320049.2",
"protein_id": "NP_001306978.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 194,
"cds_start": 126,
"cds_end": null,
"cds_length": 585,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320049.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290146",
"gene_hgnc_id": null,
"hgvs_c": "n.108G>C",
"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": 958,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "n.137G>C",
"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": 1223,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "n.115G>C",
"hgvs_p": null,
"transcript": "ENST00000620255.1",
"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": 720,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000620255.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "n.137G>C",
"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": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135131.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHB2",
"gene_hgnc_id": 30306,
"hgvs_c": "c.-506C>G",
"hgvs_p": null,
"transcript": "ENST00000925249.1",
"protein_id": "ENSP00000595308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": null,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925249.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"hgvs_c": "c.-13G>C",
"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": 616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539196.2"
}
],
"gene_symbol": "EMG1",
"gene_hgnc_id": 16912,
"dbsnp": "rs17857448",
"frequency_reference_population": 0.0000013704675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137047,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8281060457229614,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.8625,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.345,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006331.8",
"gene_symbol": "EMG1",
"hgnc_id": 16912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.126G>C",
"hgvs_p": "p.Arg42Ser"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000607161.5",
"gene_symbol": "ENSG00000290146",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.129G>C",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000925249.1",
"gene_symbol": "PHB2",
"hgnc_id": 30306,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-506C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}