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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: 11-62517320-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62517320&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62517320,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001620.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "NM_001620.3",
"protein_id": "NP_001611.1",
"transcript_support_level": null,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378024.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001620.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "ENST00000378024.9",
"protein_id": "ENSP00000367263.4",
"transcript_support_level": 2,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001620.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378024.9"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.342+17683G>T",
"hgvs_p": null,
"transcript": "ENST00000257247.11",
"protein_id": "ENSP00000257247.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257247.11"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "NM_001346445.2",
"protein_id": "NP_001333374.1",
"transcript_support_level": null,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346445.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "NM_001346446.2",
"protein_id": "NP_001333375.1",
"transcript_support_level": null,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346446.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "XM_047427573.1",
"protein_id": "XP_047283529.1",
"transcript_support_level": null,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427573.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "XM_047427574.1",
"protein_id": "XP_047283530.1",
"transcript_support_level": null,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427574.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "XM_047427575.1",
"protein_id": "XP_047283531.1",
"transcript_support_level": null,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427575.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "XM_047427576.1",
"protein_id": "XP_047283532.1",
"transcript_support_level": null,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427576.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp",
"transcript": "XM_047427577.1",
"protein_id": "XP_047283533.1",
"transcript_support_level": null,
"aa_start": 5699,
"aa_end": null,
"aa_length": 5890,
"cds_start": 17097,
"cds_end": null,
"cds_length": 17673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427577.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.16896G>T",
"hgvs_p": "p.Glu5632Asp",
"transcript": "XM_017018270.2",
"protein_id": "XP_016873759.1",
"transcript_support_level": null,
"aa_start": 5632,
"aa_end": null,
"aa_length": 5823,
"cds_start": 16896,
"cds_end": null,
"cds_length": 17472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018270.2"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.342+17683G>T",
"hgvs_p": null,
"transcript": "NM_024060.4",
"protein_id": "NP_076965.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024060.4"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.342+17683G>T",
"hgvs_p": null,
"transcript": "ENST00000530124.5",
"protein_id": "ENSP00000433789.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530124.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "c.342+17683G>T",
"hgvs_p": null,
"transcript": "ENST00000533365.5",
"protein_id": "ENSP00000433635.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533365.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"hgvs_c": "n.38G>T",
"hgvs_p": null,
"transcript": "ENST00000525875.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000525875.1"
}
],
"gene_symbol": "AHNAK",
"gene_hgnc_id": 347,
"dbsnp": "rs111551528",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16159677505493164,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.0948,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.249,
"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_001620.3",
"gene_symbol": "AHNAK",
"hgnc_id": 347,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17097G>T",
"hgvs_p": "p.Glu5699Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}