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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: 2-168834321-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=168834321&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 168834321,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001039724.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001039724.4",
"protein_id": "NP_001034813.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 506,
"cds_start": 500,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": "ENST00000317647.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000317647.12",
"protein_id": "ENSP00000318921.7",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 506,
"cds_start": 500,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": "NM_001039724.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"transcript": "ENST00000397209.6",
"protein_id": "ENSP00000380392.2",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 478,
"cds_start": 416,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000397206.6",
"protein_id": "ENSP00000380390.2",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 428,
"cds_start": 266,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000445023.6",
"protein_id": "ENSP00000404413.2",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 428,
"cds_start": 266,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "NM_001171631.2",
"protein_id": "NP_001165102.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 563,
"cds_start": 500,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000444448.6",
"protein_id": "ENSP00000394051.2",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 563,
"cds_start": 500,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "ENST00000458381.6",
"protein_id": "ENSP00000402140.2",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 563,
"cds_start": 500,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"transcript": "NM_001171632.2",
"protein_id": "NP_001165103.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 478,
"cds_start": 416,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "NM_052946.4",
"protein_id": "NP_443178.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 428,
"cds_start": 266,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000447264.2",
"protein_id": "ENSP00000390383.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 164,
"cds_start": 266,
"cds_end": null,
"cds_length": 495,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "XM_005246270.2",
"protein_id": "XP_005246327.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 542,
"cds_start": 437,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "XM_006712233.4",
"protein_id": "XP_006712296.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 542,
"cds_start": 500,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "XM_011510540.3",
"protein_id": "XP_011508842.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 521,
"cds_start": 500,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln",
"transcript": "XM_017003278.2",
"protein_id": "XP_016858767.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 485,
"cds_start": 500,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "XM_017003279.2",
"protein_id": "XP_016858768.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 485,
"cds_start": 266,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "XM_024452662.2",
"protein_id": "XP_024308430.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 485,
"cds_start": 437,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.510G>A",
"hgvs_p": null,
"transcript": "XR_007069110.1",
"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": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.510G>A",
"hgvs_p": null,
"transcript": "XR_922836.2",
"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": 1559,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPC25",
"gene_hgnc_id": 24031,
"hgvs_c": "n.420-99C>T",
"hgvs_p": null,
"transcript": "ENST00000479309.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"dbsnp": "rs73969974",
"frequency_reference_population": 0.009049042,
"hom_count_reference_population": 420,
"allele_count_reference_population": 7895,
"gnomad_exomes_af": 0.00406603,
"gnomad_genomes_af": 0.0326474,
"gnomad_exomes_ac": 2929,
"gnomad_genomes_ac": 4966,
"gnomad_exomes_homalt": 160,
"gnomad_genomes_homalt": 260,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0012488365173339844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.0598,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.509,
"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": "NM_001039724.4",
"gene_symbol": "NOSTRIN",
"hgnc_id": 20203,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Arg167Gln"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000479309.6",
"gene_symbol": "SPC25",
"hgnc_id": 24031,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.420-99C>T",
"hgvs_p": null
}
],
"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
}