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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: 18-80133138-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=80133138&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 80133138,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014913.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.144T>A",
"hgvs_p": "p.Phe48Leu",
"transcript": "NM_014913.4",
"protein_id": "NP_055728.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1131,
"cds_start": 144,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 5157,
"mane_select": "ENST00000262198.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014913.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.144T>A",
"hgvs_p": "p.Phe48Leu",
"transcript": "ENST00000262198.9",
"protein_id": "ENSP00000262198.3",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 1131,
"cds_start": 144,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 5157,
"mane_select": "NM_014913.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262198.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.144T>A",
"hgvs_p": "p.Phe48Leu",
"transcript": "ENST00000929371.1",
"protein_id": "ENSP00000599430.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1131,
"cds_start": 144,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 5159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929371.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.144T>A",
"hgvs_p": "p.Phe48Leu",
"transcript": "ENST00000929373.1",
"protein_id": "ENSP00000599432.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 1131,
"cds_start": 144,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 5227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929373.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.78T>A",
"hgvs_p": "p.Phe26Leu",
"transcript": "ENST00000929374.1",
"protein_id": "ENSP00000599433.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1109,
"cds_start": 78,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929374.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.78T>A",
"hgvs_p": "p.Phe26Leu",
"transcript": "ENST00000560752.5",
"protein_id": "ENSP00000453418.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 228,
"cds_start": 78,
"cds_end": null,
"cds_length": 687,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560752.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.144T>A",
"hgvs_p": "p.Phe48Leu",
"transcript": "ENST00000559951.5",
"protein_id": "ENSP00000453275.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 170,
"cds_start": 144,
"cds_end": null,
"cds_length": 514,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559951.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.78T>A",
"hgvs_p": "p.Phe26Leu",
"transcript": "ENST00000560561.1",
"protein_id": "ENSP00000468397.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 81,
"cds_start": 78,
"cds_end": null,
"cds_length": 246,
"cdna_start": 79,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560561.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.78T>A",
"hgvs_p": "p.Phe26Leu",
"transcript": "XM_011525883.3",
"protein_id": "XP_011524185.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1109,
"cds_start": 78,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525883.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.78T>A",
"hgvs_p": "p.Phe26Leu",
"transcript": "XM_047437350.1",
"protein_id": "XP_047293306.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1109,
"cds_start": 78,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.-232T>A",
"hgvs_p": null,
"transcript": "XM_047437351.1",
"protein_id": "XP_047293307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": null,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.-232T>A",
"hgvs_p": null,
"transcript": "XM_047437352.1",
"protein_id": "XP_047293308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": null,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437352.1"
},
{
"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": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.109-2474T>A",
"hgvs_p": null,
"transcript": "ENST00000929372.1",
"protein_id": "ENSP00000599431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1101,
"cds_start": null,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929372.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"hgvs_c": "c.34-14297T>A",
"hgvs_p": null,
"transcript": "ENST00000561195.1",
"protein_id": "ENSP00000467370.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 25,
"cds_start": null,
"cds_end": null,
"cds_length": 78,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561195.1"
}
],
"gene_symbol": "ADNP2",
"gene_hgnc_id": 23803,
"dbsnp": "rs1338437886",
"frequency_reference_population": 6.847514e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84751e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1391315758228302,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.8464,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.063,
"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_014913.4",
"gene_symbol": "ADNP2",
"hgnc_id": 23803,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.144T>A",
"hgvs_p": "p.Phe48Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}