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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: 16-372067-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=372067&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 372067,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021259.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"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.2236C>T",
"hgvs_p": "p.Pro746Ser",
"transcript": "NM_021259.3",
"protein_id": "NP_067082.2",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 771,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000431232.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021259.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2236C>T",
"hgvs_p": "p.Pro746Ser",
"transcript": "ENST00000431232.7",
"protein_id": "ENSP00000401338.2",
"transcript_support_level": 1,
"aa_start": 746,
"aa_end": null,
"aa_length": 771,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021259.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431232.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2425C>T",
"hgvs_p": "p.Pro809Ser",
"transcript": "ENST00000946607.1",
"protein_id": "ENSP00000616666.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 834,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946607.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2257C>T",
"hgvs_p": "p.Pro753Ser",
"transcript": "ENST00000930879.1",
"protein_id": "ENSP00000600938.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 778,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930879.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2215C>T",
"hgvs_p": "p.Pro739Ser",
"transcript": "ENST00000930880.1",
"protein_id": "ENSP00000600939.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 764,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930880.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2191C>T",
"hgvs_p": "p.Pro731Ser",
"transcript": "ENST00000930881.1",
"protein_id": "ENSP00000600940.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 756,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930881.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2185C>T",
"hgvs_p": "p.Pro729Ser",
"transcript": "ENST00000946605.1",
"protein_id": "ENSP00000616664.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 754,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946605.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2137C>T",
"hgvs_p": "p.Pro713Ser",
"transcript": "ENST00000946604.1",
"protein_id": "ENSP00000616663.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 738,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946604.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2089C>T",
"hgvs_p": "p.Pro697Ser",
"transcript": "ENST00000946606.1",
"protein_id": "ENSP00000616665.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 722,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946606.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.1891C>T",
"hgvs_p": "p.Pro631Ser",
"transcript": "ENST00000946608.1",
"protein_id": "ENSP00000616667.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 656,
"cds_start": 1891,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946608.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.1657C>T",
"hgvs_p": "p.Pro553Ser",
"transcript": "ENST00000250930.7",
"protein_id": "ENSP00000250930.3",
"transcript_support_level": 2,
"aa_start": 553,
"aa_end": null,
"aa_length": 578,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250930.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.637C>T",
"hgvs_p": "p.Pro213Ser",
"transcript": "ENST00000424078.5",
"protein_id": "ENSP00000397620.1",
"transcript_support_level": 3,
"aa_start": 213,
"aa_end": null,
"aa_length": 238,
"cds_start": 637,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424078.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.1657C>T",
"hgvs_p": "p.Pro553Ser",
"transcript": "XM_047434413.1",
"protein_id": "XP_047290369.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 578,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434413.1"
}
],
"gene_symbol": "PGAP6",
"gene_hgnc_id": 17205,
"dbsnp": "rs750590444",
"frequency_reference_population": 0.0000020543723,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205437,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0994211733341217,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0813,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.95,
"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_021259.3",
"gene_symbol": "PGAP6",
"hgnc_id": 17205,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2236C>T",
"hgvs_p": "p.Pro746Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}