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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: 6-44300655-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=44300655&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 44300655,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020745.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Met950Ile",
"transcript": "NM_020745.4",
"protein_id": "NP_065796.2",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 985,
"cds_start": 2850,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2874,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": "ENST00000244571.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020745.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Met950Ile",
"transcript": "ENST00000244571.5",
"protein_id": "ENSP00000244571.4",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 985,
"cds_start": 2850,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2874,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": "NM_020745.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244571.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272442",
"gene_hgnc_id": null,
"hgvs_c": "n.313-6288C>A",
"hgvs_p": null,
"transcript": "ENST00000505802.1",
"protein_id": "ENSP00000424257.1",
"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": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000505802.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2838G>T",
"hgvs_p": "p.Met946Ile",
"transcript": "ENST00000965666.1",
"protein_id": "ENSP00000635725.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 981,
"cds_start": 2838,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965666.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2811G>T",
"hgvs_p": "p.Met937Ile",
"transcript": "ENST00000856736.1",
"protein_id": "ENSP00000526795.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 972,
"cds_start": 2811,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2835,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856736.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2739G>T",
"hgvs_p": "p.Met913Ile",
"transcript": "ENST00000932746.1",
"protein_id": "ENSP00000602805.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 948,
"cds_start": 2739,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932746.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2700G>T",
"hgvs_p": "p.Met900Ile",
"transcript": "ENST00000965662.1",
"protein_id": "ENSP00000635721.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 935,
"cds_start": 2700,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2713,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965662.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2559G>T",
"hgvs_p": "p.Met853Ile",
"transcript": "ENST00000856735.1",
"protein_id": "ENSP00000526794.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 888,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856735.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2520G>T",
"hgvs_p": "p.Met840Ile",
"transcript": "ENST00000965665.1",
"protein_id": "ENSP00000635724.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 875,
"cds_start": 2520,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965665.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2481G>T",
"hgvs_p": "p.Met827Ile",
"transcript": "ENST00000965664.1",
"protein_id": "ENSP00000635723.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 862,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965664.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2229G>T",
"hgvs_p": "p.Met743Ile",
"transcript": "ENST00000965663.1",
"protein_id": "ENSP00000635722.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 778,
"cds_start": 2229,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965663.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "c.2559G>T",
"hgvs_p": "p.Met853Ile",
"transcript": "XM_005249245.4",
"protein_id": "XP_005249302.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 888,
"cds_start": 2559,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249245.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM151B",
"gene_hgnc_id": 21315,
"hgvs_c": "c.577-6288C>A",
"hgvs_p": null,
"transcript": "ENST00000438774.2",
"protein_id": "ENSP00000409337.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438774.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"hgvs_c": "n.652G>T",
"hgvs_p": null,
"transcript": "ENST00000491573.1",
"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": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491573.1"
}
],
"gene_symbol": "AARS2",
"gene_hgnc_id": 21022,
"dbsnp": "rs1554147408",
"frequency_reference_population": 0.0000018589134,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136848,
"gnomad_genomes_af": 0.00000656314,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19544029235839844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.5222,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.527,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020745.4",
"gene_symbol": "AARS2",
"hgnc_id": 21022,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2850G>T",
"hgvs_p": "p.Met950Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000505802.1",
"gene_symbol": "ENSG00000272442",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.313-6288C>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000438774.2",
"gene_symbol": "TMEM151B",
"hgnc_id": 21315,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577-6288C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}