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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: 11-101062708-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=101062708&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 101062708,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000926.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1951C>G",
"hgvs_p": "p.Leu651Val",
"transcript": "NM_000926.4",
"protein_id": "NP_000917.3",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 933,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 13037,
"mane_select": "ENST00000325455.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1951C>G",
"hgvs_p": "p.Leu651Val",
"transcript": "ENST00000325455.10",
"protein_id": "ENSP00000325120.5",
"transcript_support_level": 1,
"aa_start": 651,
"aa_end": null,
"aa_length": 933,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 13037,
"mane_select": "NM_000926.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1834C>G",
"hgvs_p": null,
"transcript": "ENST00000528960.5",
"protein_id": "ENSP00000432914.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1318C>G",
"hgvs_p": null,
"transcript": "ENST00000533207.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1951C>G",
"hgvs_p": null,
"transcript": "ENST00000534780.5",
"protein_id": "ENSP00000432352.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1907-11140C>G",
"hgvs_p": null,
"transcript": "ENST00000263463.9",
"protein_id": "ENSP00000263463.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": -4,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1907-11140C>G",
"hgvs_p": null,
"transcript": "ENST00000526300.5",
"protein_id": "ENSP00000436803.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1459C>G",
"hgvs_p": "p.Leu487Val",
"transcript": "NM_001202474.3",
"protein_id": "NP_001189403.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 769,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 12287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1834C>G",
"hgvs_p": "p.Leu612Val",
"transcript": "ENST00000619228.2",
"protein_id": "ENSP00000482698.1",
"transcript_support_level": 5,
"aa_start": 612,
"aa_end": null,
"aa_length": 764,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Leu57Val",
"transcript": "NM_001271162.2",
"protein_id": "NP_001258091.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 339,
"cds_start": 169,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 11043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.169C>G",
"hgvs_p": "p.Leu57Val",
"transcript": "ENST00000534013.5",
"protein_id": "ENSP00000436561.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 339,
"cds_start": 169,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Leu125Val",
"transcript": "ENST00000632634.1",
"protein_id": "ENSP00000487607.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 169,
"cds_start": 373,
"cds_end": null,
"cds_length": 512,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1951C>G",
"hgvs_p": "p.Leu651Val",
"transcript": "XM_006718858.4",
"protein_id": "XP_006718921.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 797,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1958C>G",
"hgvs_p": null,
"transcript": "NR_073141.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1841C>G",
"hgvs_p": null,
"transcript": "NR_073142.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "c.1415-11140C>G",
"hgvs_p": null,
"transcript": "NM_001271161.2",
"protein_id": "NP_001258090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": -4,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"hgvs_c": "n.1914-11140C>G",
"hgvs_p": null,
"transcript": "NR_073143.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PGR",
"gene_hgnc_id": 8910,
"dbsnp": "rs11571222",
"frequency_reference_population": 0.0022483107,
"hom_count_reference_population": 8,
"allele_count_reference_population": 3628,
"gnomad_exomes_af": 0.00227102,
"gnomad_genomes_af": 0.00203025,
"gnomad_exomes_ac": 3319,
"gnomad_genomes_ac": 309,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0074652135372161865,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.101,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.147,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000926.4",
"gene_symbol": "PGR",
"hgnc_id": 8910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1951C>G",
"hgvs_p": "p.Leu651Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}