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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: 20-34991096-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34991096&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34991096,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020884.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2158T>A",
"hgvs_p": "p.Leu720Met",
"transcript": "NM_020884.7",
"protein_id": "NP_065935.4",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1941,
"cds_start": 2158,
"cds_end": null,
"cds_length": 5826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262873.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020884.7"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2158T>A",
"hgvs_p": "p.Leu720Met",
"transcript": "ENST00000262873.13",
"protein_id": "ENSP00000262873.8",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 1941,
"cds_start": 2158,
"cds_end": null,
"cds_length": 5826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020884.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262873.13"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2122T>A",
"hgvs_p": "p.Leu708Met",
"transcript": "ENST00000888939.1",
"protein_id": "ENSP00000558998.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 1929,
"cds_start": 2122,
"cds_end": null,
"cds_length": 5790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888939.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2122T>A",
"hgvs_p": "p.Leu708Met",
"transcript": "ENST00000971120.1",
"protein_id": "ENSP00000641179.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 1929,
"cds_start": 2122,
"cds_end": null,
"cds_length": 5790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971120.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2023T>A",
"hgvs_p": "p.Leu675Met",
"transcript": "ENST00000971121.1",
"protein_id": "ENSP00000641180.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 1896,
"cds_start": 2023,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971121.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2308T>A",
"hgvs_p": "p.Leu770Met",
"transcript": "XM_047440336.1",
"protein_id": "XP_047296292.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 2033,
"cds_start": 2308,
"cds_end": null,
"cds_length": 6102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440336.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2284T>A",
"hgvs_p": "p.Leu762Met",
"transcript": "XM_047440337.1",
"protein_id": "XP_047296293.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 2025,
"cds_start": 2284,
"cds_end": null,
"cds_length": 6078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440337.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2284T>A",
"hgvs_p": "p.Leu762Met",
"transcript": "XM_006723840.4",
"protein_id": "XP_006723903.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 1989,
"cds_start": 2284,
"cds_end": null,
"cds_length": 5970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723840.4"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.2149T>A",
"hgvs_p": "p.Leu717Met",
"transcript": "XM_047440338.1",
"protein_id": "XP_047296294.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1938,
"cds_start": 2149,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440338.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.1738T>A",
"hgvs_p": "p.Leu580Met",
"transcript": "XM_047440339.1",
"protein_id": "XP_047296295.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 1843,
"cds_start": 1738,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440339.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.1531T>A",
"hgvs_p": "p.Leu511Met",
"transcript": "XM_047440340.1",
"protein_id": "XP_047296296.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 1774,
"cds_start": 1531,
"cds_end": null,
"cds_length": 5325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440340.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"hgvs_c": "c.1531T>A",
"hgvs_p": "p.Leu511Met",
"transcript": "XM_047440341.1",
"protein_id": "XP_047296297.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 1774,
"cds_start": 1531,
"cds_end": null,
"cds_length": 5325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440341.1"
}
],
"gene_symbol": "MYH7B",
"gene_hgnc_id": 15906,
"dbsnp": "rs2425009",
"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": 0.17999380826950073,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.1235,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.091,
"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_020884.7",
"gene_symbol": "MYH7B",
"hgnc_id": 15906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2158T>A",
"hgvs_p": "p.Leu720Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}