← Back to variant description
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: 22-50068488-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50068488&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50068488,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000311597.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_015166.4",
"protein_id": "NP_055981.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": "ENST00000311597.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "ENST00000311597.10",
"protein_id": "ENSP00000310375.6",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": "NM_015166.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "ENST00000395876.6",
"protein_id": "ENSP00000379216.2",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_001376472.1",
"protein_id": "NP_001363401.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_001376473.1",
"protein_id": "NP_001363402.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_001376474.1",
"protein_id": "NP_001363403.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_001376475.1",
"protein_id": "NP_001363404.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_001376476.1",
"protein_id": "NP_001363405.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_001376477.1",
"protein_id": "NP_001363406.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_001376478.1",
"protein_id": "NP_001363407.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*",
"transcript": "NM_139202.3",
"protein_id": "NP_631941.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 377,
"cds_start": 839,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Ser261*",
"transcript": "NM_001376479.1",
"protein_id": "NP_001363408.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 358,
"cds_start": 782,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.749C>A",
"hgvs_p": "p.Ser250*",
"transcript": "NM_001376480.1",
"protein_id": "NP_001363409.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 347,
"cds_start": 749,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.737C>A",
"hgvs_p": "p.Ser246*",
"transcript": "NM_001376481.1",
"protein_id": "NP_001363410.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 343,
"cds_start": 737,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.683C>A",
"hgvs_p": "p.Ser228*",
"transcript": "NM_001376482.1",
"protein_id": "NP_001363411.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 325,
"cds_start": 683,
"cds_end": null,
"cds_length": 978,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.683C>A",
"hgvs_p": "p.Ser228*",
"transcript": "NM_001376483.1",
"protein_id": "NP_001363412.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 325,
"cds_start": 683,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "c.602C>A",
"hgvs_p": "p.Ser201*",
"transcript": "NM_001376484.1",
"protein_id": "NP_001363413.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 298,
"cds_start": 602,
"cds_end": null,
"cds_length": 897,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.196C>A",
"hgvs_p": null,
"transcript": "ENST00000483836.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.1186C>A",
"hgvs_p": null,
"transcript": "NR_164811.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.970C>A",
"hgvs_p": null,
"transcript": "NR_164812.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"hgvs_c": "n.1363C>A",
"hgvs_p": null,
"transcript": "NR_164813.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MLC1",
"gene_hgnc_id": 17082,
"dbsnp": "rs121908341",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.661,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000311597.10",
"gene_symbol": "MLC1",
"hgnc_id": 17082,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280*"
}
],
"clinvar_disease": "Megalencephalic leukoencephalopathy with subcortical cysts 1",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Megalencephalic leukoencephalopathy with subcortical cysts 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}