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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: 2-168859599-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=168859599&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 168859599,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000317647.12",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.His381Tyr",
"transcript": "NM_001039724.4",
"protein_id": "NP_001034813.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 506,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": "ENST00000317647.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.His381Tyr",
"transcript": "ENST00000317647.12",
"protein_id": "ENSP00000318921.7",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 506,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": "NM_001039724.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.His353Tyr",
"transcript": "ENST00000397209.6",
"protein_id": "ENSP00000380392.2",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 478,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.His303Tyr",
"transcript": "ENST00000397206.6",
"protein_id": "ENSP00000380390.2",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 428,
"cds_start": 907,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.His303Tyr",
"transcript": "ENST00000445023.6",
"protein_id": "ENSP00000404413.2",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 428,
"cds_start": 907,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.His438Tyr",
"transcript": "NM_001171631.2",
"protein_id": "NP_001165102.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 563,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.His438Tyr",
"transcript": "ENST00000444448.6",
"protein_id": "ENSP00000394051.2",
"transcript_support_level": 5,
"aa_start": 438,
"aa_end": null,
"aa_length": 563,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.His438Tyr",
"transcript": "ENST00000458381.6",
"protein_id": "ENSP00000402140.2",
"transcript_support_level": 2,
"aa_start": 438,
"aa_end": null,
"aa_length": 563,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.His353Tyr",
"transcript": "NM_001171632.2",
"protein_id": "NP_001165103.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 478,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.His303Tyr",
"transcript": "NM_052946.4",
"protein_id": "NP_443178.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 428,
"cds_start": 907,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.His417Tyr",
"transcript": "XM_005246270.2",
"protein_id": "XP_005246327.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 542,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.His438Tyr",
"transcript": "XM_006712233.4",
"protein_id": "XP_006712296.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 542,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.His438Tyr",
"transcript": "XM_011510540.3",
"protein_id": "XP_011508842.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 521,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.His381Tyr",
"transcript": "XM_017003278.2",
"protein_id": "XP_016858767.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 485,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.His360Tyr",
"transcript": "XM_017003279.2",
"protein_id": "XP_016858768.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 485,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.1078C>T",
"hgvs_p": "p.His360Tyr",
"transcript": "XM_024452662.2",
"protein_id": "XP_024308430.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 485,
"cds_start": 1078,
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"cdna_start": 1088,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "XM_011510543.3",
"protein_id": "XP_011508845.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 381,
"cds_start": 766,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.His199Tyr",
"transcript": "XM_047443189.1",
"protein_id": "XP_047299145.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 324,
"cds_start": 595,
"cds_end": null,
"cds_length": 975,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
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"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.1181C>T",
"hgvs_p": null,
"transcript": "ENST00000472260.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.491C>T",
"hgvs_p": null,
"transcript": "ENST00000495202.1",
"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": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.419+13986G>A",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"hgvs_c": "n.*479C>T",
"hgvs_p": null,
"transcript": "ENST00000427068.1",
"protein_id": "ENSP00000388597.1",
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOSTRIN",
"gene_hgnc_id": 20203,
"dbsnp": "rs545174739",
"frequency_reference_population": 0.0000018586117,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136817,
"gnomad_genomes_af": 0.00000656573,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26319122314453125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.2277,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.225,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000317647.12",
"gene_symbol": "NOSTRIN",
"hgnc_id": 20203,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.His381Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000479309.6",
"gene_symbol": "SPC25",
"hgnc_id": 24031,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.419+13986G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}