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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: 2-96254005-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96254005&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM127",
"hgnc_id": 26038,
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_017849.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9961,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8224433064460754,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6271,
"cdna_start": 780,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_017849.4",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6271,
"cdna_start": 780,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000258439.8",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6259,
"cdna_start": 754,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432959.2",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6248,
"cdna_start": 757,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001193304.3",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910913.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 886,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000910914.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 797,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000910915.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 719,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000939309.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 238,
"aa_ref": "A",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3236,
"cdna_start": 936,
"cds_end": null,
"cds_length": 717,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000963839.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"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": "P",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4192,
"cdna_start": 764,
"cds_end": null,
"cds_length": 693,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000939308.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Ala166Pro",
"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": "P",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 704,
"cds_end": null,
"cds_length": 693,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000963838.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.496G>C",
"hgvs_p": "p.Ala166Pro",
"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": "P",
"aa_end": null,
"aa_length": 154,
"aa_ref": "A",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5868,
"cdna_start": 377,
"cds_end": null,
"cds_length": 465,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407282.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.268G>C",
"hgvs_p": "p.Ala90Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394211.1",
"strand": false,
"transcript": "NM_001407282.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 154,
"aa_ref": "A",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 405,
"cds_end": null,
"cds_length": 465,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001407283.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.268G>C",
"hgvs_p": "p.Ala90Pro",
"intron_rank": null,
"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": "P",
"aa_end": null,
"aa_length": 154,
"aa_ref": "A",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5868,
"cdna_start": 377,
"cds_end": null,
"cds_length": 465,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000435268.2",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.268G>C",
"hgvs_p": "p.Ala90Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411810.1",
"strand": false,
"transcript": "ENST00000435268.2",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 154,
"aa_ref": "A",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5942,
"cdna_start": 455,
"cds_end": null,
"cds_length": 465,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000713752.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.268G>C",
"hgvs_p": "p.Ala90Pro",
"intron_rank": null,
"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": "P",
"aa_end": null,
"aa_length": 154,
"aa_ref": "A",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 712,
"cds_end": null,
"cds_length": 465,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000713753.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "c.268G>C",
"hgvs_p": "p.Ala90Pro",
"intron_rank": null,
"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": 4,
"exon_rank_end": null,
"feature": "ENST00000713754.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "n.*200G>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": 5,
"exon_rank_end": null,
"feature": "ENST00000713755.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "n.*264G>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": 5,
"exon_rank_end": null,
"feature": "ENST00000713756.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "n.*288G>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
},
{
"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": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713754.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "n.*200G>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": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000713755.1",
"gene_hgnc_id": 26038,
"gene_symbol": "TMEM127",
"hgvs_c": "n.*264G>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",
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]
}