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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: 8-39746605-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=39746605&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 39746605,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001464.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.His681Tyr",
"transcript": "NM_001464.5",
"protein_id": "NP_001455.3",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 735,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": "ENST00000265708.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.His681Tyr",
"transcript": "ENST00000265708.9",
"protein_id": "ENSP00000265708.4",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 735,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": "NM_001464.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.His662Tyr",
"transcript": "ENST00000347580.8",
"protein_id": "ENSP00000343854.4",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 716,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.His525Tyr",
"transcript": "ENST00000379853.6",
"protein_id": "ENSP00000369182.2",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 579,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.His662Tyr",
"transcript": "NM_001278113.2",
"protein_id": "NP_001265042.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 716,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.1852C>T",
"hgvs_p": "p.His618Tyr",
"transcript": "NM_001278114.2",
"protein_id": "NP_001265043.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 672,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.1852C>T",
"hgvs_p": "p.His618Tyr",
"transcript": "ENST00000521880.5",
"protein_id": "ENSP00000429352.1",
"transcript_support_level": 2,
"aa_start": 618,
"aa_end": null,
"aa_length": 672,
"cds_start": 1852,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.His525Tyr",
"transcript": "NM_001437784.1",
"protein_id": "NP_001424713.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 579,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.1951C>T",
"hgvs_p": "p.His651Tyr",
"transcript": "XM_005273468.1",
"protein_id": "XP_005273525.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 705,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"hgvs_c": "c.1663C>T",
"hgvs_p": "p.His555Tyr",
"transcript": "XM_011544479.1",
"protein_id": "XP_011542781.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 609,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAM2",
"gene_hgnc_id": 198,
"dbsnp": "rs1823475880",
"frequency_reference_population": 0.0000065888307,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658883,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0998622477054596,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.0796,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.177,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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_001464.5",
"gene_symbol": "ADAM2",
"hgnc_id": 198,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.His681Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}