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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: 16-372016-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=372016&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 372016,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021259.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2287G>C",
"hgvs_p": "p.Asp763His",
"transcript": "NM_021259.3",
"protein_id": "NP_067082.2",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 771,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": "ENST00000431232.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021259.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2287G>C",
"hgvs_p": "p.Asp763His",
"transcript": "ENST00000431232.7",
"protein_id": "ENSP00000401338.2",
"transcript_support_level": 1,
"aa_start": 763,
"aa_end": null,
"aa_length": 771,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": "NM_021259.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431232.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2476G>C",
"hgvs_p": "p.Asp826His",
"transcript": "ENST00000946607.1",
"protein_id": "ENSP00000616666.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 834,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946607.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2308G>C",
"hgvs_p": "p.Asp770His",
"transcript": "ENST00000930879.1",
"protein_id": "ENSP00000600938.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 778,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930879.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2266G>C",
"hgvs_p": "p.Asp756His",
"transcript": "ENST00000930880.1",
"protein_id": "ENSP00000600939.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 764,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930880.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2242G>C",
"hgvs_p": "p.Asp748His",
"transcript": "ENST00000930881.1",
"protein_id": "ENSP00000600940.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 756,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930881.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2236G>C",
"hgvs_p": "p.Asp746His",
"transcript": "ENST00000946605.1",
"protein_id": "ENSP00000616664.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 754,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946605.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2188G>C",
"hgvs_p": "p.Asp730His",
"transcript": "ENST00000946604.1",
"protein_id": "ENSP00000616663.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 738,
"cds_start": 2188,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946604.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.2140G>C",
"hgvs_p": "p.Asp714His",
"transcript": "ENST00000946606.1",
"protein_id": "ENSP00000616665.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 722,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946606.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.1942G>C",
"hgvs_p": "p.Asp648His",
"transcript": "ENST00000946608.1",
"protein_id": "ENSP00000616667.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 656,
"cds_start": 1942,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946608.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.1708G>C",
"hgvs_p": "p.Asp570His",
"transcript": "ENST00000250930.7",
"protein_id": "ENSP00000250930.3",
"transcript_support_level": 2,
"aa_start": 570,
"aa_end": null,
"aa_length": 578,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250930.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Asp230His",
"transcript": "ENST00000424078.5",
"protein_id": "ENSP00000397620.1",
"transcript_support_level": 3,
"aa_start": 230,
"aa_end": null,
"aa_length": 238,
"cds_start": 688,
"cds_end": null,
"cds_length": 717,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424078.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"hgvs_c": "c.1708G>C",
"hgvs_p": "p.Asp570His",
"transcript": "XM_047434413.1",
"protein_id": "XP_047290369.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 578,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434413.1"
}
],
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"dbsnp": "rs780124401",
"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": 0.051546961069107056,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.1016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.457,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_021259.3",
"gene_symbol": "PGAP6",
"hgnc_id": 17205,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2287G>C",
"hgvs_p": "p.Asp763His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}