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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: 7-122133533-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=122133533&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 122133533,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000417368.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln",
"transcript": "NM_005763.4",
"protein_id": "NP_005754.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 926,
"cds_start": 194,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": "ENST00000417368.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln",
"transcript": "ENST00000417368.7",
"protein_id": "ENSP00000403768.2",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 926,
"cds_start": 194,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": "NM_005763.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln",
"transcript": "ENST00000393376.5",
"protein_id": "ENSP00000377040.1",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 926,
"cds_start": 194,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 3233,
"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": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.194G>A",
"hgvs_p": null,
"transcript": "ENST00000358954.6",
"protein_id": "ENSP00000351834.2",
"transcript_support_level": 1,
"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": 3126,
"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": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.194G>A",
"hgvs_p": null,
"transcript": "ENST00000431170.5",
"protein_id": "ENSP00000414001.1",
"transcript_support_level": 1,
"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": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln",
"transcript": "ENST00000679511.1",
"protein_id": "ENSP00000505381.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 926,
"cds_start": 194,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 5774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln",
"transcript": "XM_011515725.3",
"protein_id": "XP_011514027.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 894,
"cds_start": 194,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln",
"transcript": "XM_047419710.1",
"protein_id": "XP_047275666.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 800,
"cds_start": 194,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln",
"transcript": "XM_047419711.1",
"protein_id": "XP_047275667.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 469,
"cds_start": 194,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1564,
"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": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.194G>A",
"hgvs_p": null,
"transcript": "ENST00000679579.1",
"protein_id": "ENSP00000505506.1",
"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": 5721,
"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": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.194G>A",
"hgvs_p": null,
"transcript": "ENST00000679847.1",
"protein_id": "ENSP00000505881.1",
"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": 5728,
"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": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.194G>A",
"hgvs_p": null,
"transcript": "ENST00000679864.1",
"protein_id": "ENSP00000505958.1",
"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": 4519,
"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": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.194G>A",
"hgvs_p": null,
"transcript": "ENST00000681434.1",
"protein_id": "ENSP00000505671.1",
"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": 4963,
"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": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.357G>A",
"hgvs_p": null,
"transcript": "ENST00000681708.1",
"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": 8554,
"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": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.298G>A",
"hgvs_p": null,
"transcript": "XR_007059980.1",
"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": 2488,
"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": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.298G>A",
"hgvs_p": null,
"transcript": "XR_927326.3",
"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": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "c.-137+10628G>A",
"hgvs_p": null,
"transcript": "ENST00000473553.5",
"protein_id": "ENSP00000506240.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"hgvs_c": "n.94+10628G>A",
"hgvs_p": null,
"transcript": "ENST00000679402.1",
"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": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AASS",
"gene_hgnc_id": 17366,
"dbsnp": "rs587777125",
"frequency_reference_population": 0.0000074348245,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752453,
"gnomad_genomes_af": 0.00000657289,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9327325820922852,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.882,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.83,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000417368.7",
"gene_symbol": "AASS",
"hgnc_id": 17366,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65Gln"
}
],
"clinvar_disease": "Hyperlysinemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hyperlysinemia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}