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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: 1-47287629-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47287629&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 47287629,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000371877.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "NM_001048166.1",
"protein_id": "NP_001041631.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": "ENST00000371877.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "ENST00000371877.8",
"protein_id": "ENSP00000360944.3",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": "NM_001048166.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "ENST00000360380.7",
"protein_id": "ENSP00000353544.3",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 1287,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 5225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "ENST00000396221.6",
"protein_id": "ENSP00000379523.2",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "ENST00000447475.7",
"protein_id": "ENSP00000411664.3",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 1223,
"cds_start": 914,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "NM_001282936.1",
"protein_id": "NP_001269865.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1287,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 5225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "NM_003035.2",
"protein_id": "NP_003026.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1287,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "NM_001282937.1",
"protein_id": "NP_001269866.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "NM_001282938.1",
"protein_id": "NP_001269867.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1241,
"cds_start": 914,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 5087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "NM_001377417.1",
"protein_id": "NP_001364346.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1241,
"cds_start": 914,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "ENST00000337817.10",
"protein_id": "ENSP00000337367.6",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 1241,
"cds_start": 914,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "ENST00000682977.1",
"protein_id": "ENSP00000506981.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1241,
"cds_start": 914,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305His",
"transcript": "NM_001282939.1",
"protein_id": "NP_001269868.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 1223,
"cds_start": 914,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118His",
"transcript": "ENST00000683977.1",
"protein_id": "ENSP00000507568.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 728,
"cds_start": 353,
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"cdna_start": 354,
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"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "ENST00000436811.2",
"protein_id": "ENSP00000409087.2",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 676,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2033,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "XM_006710834.4",
"protein_id": "XP_006710897.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
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"cds_start": 1055,
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"cdna_start": 1284,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "XM_011541991.3",
"protein_id": "XP_011540293.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1055,
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"cds_length": 3867,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 5119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "XM_011541992.3",
"protein_id": "XP_011540294.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "XM_047428300.1",
"protein_id": "XP_047284256.1",
"transcript_support_level": null,
"aa_start": 352,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "XM_047428304.1",
"protein_id": "XP_047284260.1",
"transcript_support_level": null,
"aa_start": 352,
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"cds_start": 1055,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "XM_047428310.1",
"protein_id": "XP_047284266.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1055,
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"cdna_start": 2209,
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"cdna_length": 6018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
"hgvs_p": "p.Arg352His",
"transcript": "XM_047428312.1",
"protein_id": "XP_047284268.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1055,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.1055G>A",
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"clinvar_submissions_summary": "US:1 LB:3 B:3",
"phenotype_combined": "not provided|not specified|Microcephaly 7, primary, autosomal recessive",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
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}