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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: 14-21234129-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21234129&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21234129,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031314.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "NM_004500.4",
"protein_id": "NP_004491.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 293,
"cds_start": 65,
"cds_end": null,
"cds_length": 882,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "ENST00000553300.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004500.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000553300.6",
"protein_id": "ENSP00000450544.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 293,
"cds_start": 65,
"cds_end": null,
"cds_length": 882,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "NM_004500.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553300.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000554455.5",
"protein_id": "ENSP00000451291.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554455.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000557201.5",
"protein_id": "ENSP00000452276.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557201.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000430246.6",
"protein_id": "ENSP00000442816.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 293,
"cds_start": 65,
"cds_end": null,
"cds_length": 882,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430246.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000556897.5",
"protein_id": "ENSP00000451176.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 293,
"cds_start": 65,
"cds_end": null,
"cds_length": 882,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556897.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000555883.5",
"protein_id": "ENSP00000450629.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 250,
"cds_start": 65,
"cds_end": null,
"cds_length": 753,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555883.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000556628.5",
"protein_id": "ENSP00000451652.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 226,
"cds_start": 65,
"cds_end": null,
"cds_length": 681,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556628.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000948341.1",
"protein_id": "ENSP00000618400.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 353,
"cds_start": 65,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948341.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000913880.1",
"protein_id": "ENSP00000583939.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 340,
"cds_start": 65,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913880.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "NM_001077442.2",
"protein_id": "NP_001070910.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077442.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "NM_031314.3",
"protein_id": "NP_112604.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031314.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000420743.6",
"protein_id": "ENSP00000404848.2",
"transcript_support_level": 2,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420743.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861385.1",
"protein_id": "ENSP00000531444.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861385.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861388.1",
"protein_id": "ENSP00000531447.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861388.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861389.1",
"protein_id": "ENSP00000531448.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861389.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861392.1",
"protein_id": "ENSP00000531451.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861392.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861394.1",
"protein_id": "ENSP00000531453.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861394.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861397.1",
"protein_id": "ENSP00000531456.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861397.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861408.1",
"protein_id": "ENSP00000531467.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861408.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861409.1",
"protein_id": "ENSP00000531468.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861409.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser",
"transcript": "ENST00000861416.1",
"protein_id": "ENSP00000531475.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 306,
"cds_start": 65,
"cds_end": null,
"cds_length": 921,
"cdna_start": 749,
"cdna_end": null,
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8172202110290527,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.459,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9977,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.995,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031314.3",
"gene_symbol": "HNRNPC",
"hgnc_id": 5035,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.65A>G",
"hgvs_p": "p.Asn22Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}