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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: 19-19634670-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19634670&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19634670,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000203556.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Asp641Asn",
"transcript": "NM_016573.4",
"protein_id": "NP_057657.2",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 970,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": "ENST00000203556.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Asp641Asn",
"transcript": "ENST00000203556.9",
"protein_id": "ENSP00000203556.3",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 970,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": "NM_016573.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "ENST00000587238.5",
"protein_id": "ENSP00000467054.1",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 944,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "NM_001288999.2",
"protein_id": "NP_001275928.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 944,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"transcript": "NM_001288998.2",
"protein_id": "NP_001275927.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 941,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Asp638Asn",
"transcript": "XM_005259927.3",
"protein_id": "XP_005259984.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 967,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Asp641Asn",
"transcript": "XM_017026862.2",
"protein_id": "XP_016882351.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 835,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Asp638Asn",
"transcript": "XM_047438904.1",
"protein_id": "XP_047294860.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 832,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Asp615Asn",
"transcript": "XM_047438905.1",
"protein_id": "XP_047294861.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 809,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Asp612Asn",
"transcript": "XM_047438906.1",
"protein_id": "XP_047294862.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 806,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 3657,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "n.453+122G>A",
"hgvs_p": null,
"transcript": "ENST00000586269.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 533,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"hgvs_c": "c.1887+122G>A",
"hgvs_p": null,
"transcript": "XM_047438907.1",
"protein_id": "XP_047294863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": -4,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GMIP",
"gene_hgnc_id": 24852,
"dbsnp": "rs12003",
"frequency_reference_population": 0.034412574,
"hom_count_reference_population": 1098,
"allele_count_reference_population": 55456,
"gnomad_exomes_af": 0.0352093,
"gnomad_genomes_af": 0.0267641,
"gnomad_exomes_ac": 51387,
"gnomad_genomes_ac": 4069,
"gnomad_exomes_homalt": 1007,
"gnomad_genomes_homalt": 91,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003163933753967285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0915,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.078,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000203556.9",
"gene_symbol": "GMIP",
"hgnc_id": 24852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Asp641Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}