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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: 4-6576599-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6576599&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 6576599,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015274.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "NM_015274.3",
"protein_id": "NP_056089.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1009,
"cds_start": 160,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285599.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015274.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000285599.8",
"protein_id": "ENSP00000285599.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 1009,
"cds_start": 160,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015274.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285599.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000868575.1",
"protein_id": "ENSP00000538634.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1070,
"cds_start": 160,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868575.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Ala100Thr",
"transcript": "ENST00000868574.1",
"protein_id": "ENSP00000538633.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 1055,
"cds_start": 298,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868574.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000868572.1",
"protein_id": "ENSP00000538631.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1040,
"cds_start": 160,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868572.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000868570.1",
"protein_id": "ENSP00000538629.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 1036,
"cds_start": 160,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868570.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000868569.1",
"protein_id": "ENSP00000538628.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 997,
"cds_start": 160,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868569.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000868573.1",
"protein_id": "ENSP00000538632.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 972,
"cds_start": 160,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868573.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000937741.1",
"protein_id": "ENSP00000607800.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 972,
"cds_start": 160,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937741.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "NM_001292038.2",
"protein_id": "NP_001278967.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 958,
"cds_start": 160,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292038.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000504248.5",
"protein_id": "ENSP00000423129.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 958,
"cds_start": 160,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504248.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Ala52Thr",
"transcript": "ENST00000505907.1",
"protein_id": "ENSP00000426273.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 952,
"cds_start": 154,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505907.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr",
"transcript": "ENST00000868571.1",
"protein_id": "ENSP00000538630.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 945,
"cds_start": 160,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868571.1"
}
],
"gene_symbol": "MAN2B2",
"gene_hgnc_id": 29623,
"dbsnp": "rs145563570",
"frequency_reference_population": 0.00036449204,
"hom_count_reference_population": 0,
"allele_count_reference_population": 588,
"gnomad_exomes_af": 0.000362768,
"gnomad_genomes_af": 0.000381037,
"gnomad_exomes_ac": 530,
"gnomad_genomes_ac": 58,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15282773971557617,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.1105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.845,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015274.3",
"gene_symbol": "MAN2B2",
"hgnc_id": 29623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Ala54Thr"
}
],
"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
}