← Back to variant description
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: 10-113634170-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=113634170&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 113634170,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359988.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "NM_198060.4",
"protein_id": "NP_932326.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1730,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5613,
"mane_select": "ENST00000359988.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "ENST00000359988.4",
"protein_id": "ENSP00000353078.3",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 1730,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5613,
"mane_select": "NM_198060.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "ENST00000369358.8",
"protein_id": "ENSP00000358365.4",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 1731,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 5534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Ser455Leu",
"transcript": "ENST00000360478.7",
"protein_id": "ENSP00000353666.3",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 1695,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5088,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "NM_001261463.2",
"protein_id": "NP_001248392.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1731,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Ser455Leu",
"transcript": "ENST00000369360.7",
"protein_id": "ENSP00000358367.3",
"transcript_support_level": 5,
"aa_start": 455,
"aa_end": null,
"aa_length": 1703,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5112,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 5535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Ser455Leu",
"transcript": "NM_006175.5",
"protein_id": "NP_006166.3",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1695,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5088,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "NM_001322945.2",
"protein_id": "NP_001309874.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1694,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5085,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Ser455Leu",
"transcript": "XM_005269864.3",
"protein_id": "XP_005269921.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 1696,
"cds_start": 1364,
"cds_end": null,
"cds_length": 5091,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "XM_006717870.3",
"protein_id": "XP_006717933.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1696,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5091,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "XM_005269865.3",
"protein_id": "XP_005269922.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1695,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5088,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "XM_011539832.3",
"protein_id": "XP_011538134.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1695,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5088,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "XM_047425253.1",
"protein_id": "XP_047281209.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1695,
"cds_start": 1469,
"cds_end": null,
"cds_length": 5088,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "XM_005269867.3",
"protein_id": "XP_005269924.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1627,
"cds_start": 1469,
"cds_end": null,
"cds_length": 4884,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "XM_024448029.2",
"protein_id": "XP_024303797.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1626,
"cds_start": 1469,
"cds_end": null,
"cds_length": 4881,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRAP",
"gene_hgnc_id": 7988,
"dbsnp": "rs3189030",
"frequency_reference_population": 0.3099052,
"hom_count_reference_population": 80769,
"allele_count_reference_population": 499398,
"gnomad_exomes_af": 0.314308,
"gnomad_genomes_af": 0.267637,
"gnomad_exomes_ac": 458714,
"gnomad_genomes_ac": 40684,
"gnomad_exomes_homalt": 74710,
"gnomad_genomes_homalt": 6059,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0009263753890991211,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.1257,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.488,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000359988.4",
"gene_symbol": "NRAP",
"hgnc_id": 7988,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu"
}
],
"clinvar_disease": "NRAP-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|not specified|NRAP-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}