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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: 22-30555206-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30555206&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30555206,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000406361.6",
"consequences": [
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318104.2",
"protein_id": "NP_001305033.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": "ENST00000406361.6",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000406361.6",
"protein_id": "ENSP00000385207.1",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": "NM_001318104.2",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000338911.6",
"protein_id": "ENSP00000343234.5",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1782,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000401975.5",
"protein_id": "ENSP00000384388.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 1791,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000406955.5",
"protein_id": "ENSP00000385825.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1635,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "NM_001318107.2",
"protein_id": "NP_001305036.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 424,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1892,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "NM_001318114.2",
"protein_id": "NP_001305043.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 424,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 1638,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318103.2",
"protein_id": "NP_001305032.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1799,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318105.2",
"protein_id": "NP_001305034.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 1779,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318106.2",
"protein_id": "NP_001305035.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 1904,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318108.2",
"protein_id": "NP_001305037.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 1889,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318109.2",
"protein_id": "NP_001305038.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1663,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318110.2",
"protein_id": "NP_001305039.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1786,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318111.2",
"protein_id": "NP_001305040.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
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"cdna_start": 1105,
"cdna_end": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318112.2",
"protein_id": "NP_001305041.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 1635,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318113.2",
"protein_id": "NP_001305042.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
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"cdna_start": 1174,
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"cdna_length": 1745,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318115.2",
"protein_id": "NP_001305044.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1764,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_001318116.2",
"protein_id": "NP_001305045.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 1887,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_004861.3",
"protein_id": "NP_004852.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
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"cdna_start": 1234,
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"cdna_length": 1805,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000402321.5",
"protein_id": "ENSP00000385735.1",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 1908,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000402369.5",
"protein_id": "ENSP00000384122.1",
"transcript_support_level": 3,
"aa_start": 340,
"aa_end": null,
"aa_length": 423,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1712,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366His",
"transcript": "XM_011530518.3",
"protein_id": "XP_011528820.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 449,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 1669,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAL3ST1",
"gene_hgnc_id": 24240,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
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],
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{
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"verdict": "Likely_benign",
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"clinvar_disease": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}