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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: 2-96265379-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96265379&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS1_Moderate",
"PM2"
],
"effects": [
"start_lost"
],
"gene_symbol": "TMEM127",
"hgnc_id": 26038,
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_017849.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS1_Moderate,PM2",
"acmg_score": 12,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9864288568496704,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6271,
"cdna_start": 263,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_017849.4",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258439.8",
"protein_coding": true,
"protein_id": "NP_060319.1",
"strand": false,
"transcript": "NM_017849.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6271,
"cdna_start": 263,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000258439.8",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017849.4",
"protein_coding": true,
"protein_id": "ENSP00000258439.3",
"strand": false,
"transcript": "ENST00000258439.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6259,
"cdna_start": 237,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000432959.2",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416660.1",
"strand": false,
"transcript": "ENST00000432959.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 240,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001193304.3",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180233.1",
"strand": false,
"transcript": "NM_001193304.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 632,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000910913.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580972.1",
"strand": false,
"transcript": "ENST00000910913.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 369,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910914.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580973.1",
"strand": false,
"transcript": "ENST00000910914.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 280,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910915.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580974.1",
"strand": false,
"transcript": "ENST00000910915.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 202,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939309.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609368.1",
"strand": false,
"transcript": "ENST00000939309.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 238,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3236,
"cdna_start": 419,
"cds_end": null,
"cds_length": 717,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000963839.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633898.1",
"strand": false,
"transcript": "ENST00000963839.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 230,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": 271,
"cds_end": null,
"cds_length": 693,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939308.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609367.1",
"strand": false,
"transcript": "ENST00000939308.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 230,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 211,
"cds_end": null,
"cds_length": 693,
"cds_start": 3,
"consequences": [
"start_lost"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000963838.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.3G>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633897.1",
"strand": false,
"transcript": "ENST00000963838.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407283.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.-9+490G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394212.1",
"strand": false,
"transcript": "NM_001407283.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5942,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713752.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.-9+490G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519053.1",
"strand": false,
"transcript": "ENST00000713752.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713753.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.-195+39G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519054.1",
"strand": false,
"transcript": "ENST00000713753.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000713754.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "n.3G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519055.1",
"strand": false,
"transcript": "ENST00000713754.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000713755.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "n.3G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519056.1",
"strand": false,
"transcript": "ENST00000713755.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000713756.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "n.3G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519057.1",
"strand": false,
"transcript": "ENST00000713756.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121908814",
"effect": "start_lost",
"frequency_reference_population": 7.8467315e-7,
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.84673e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.071,
"pos": 96265379,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.655,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017849.4"
}
]
}