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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: 6-26087508-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26087508&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 26087508,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000410.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_000410.4",
"protein_id": "NP_000401.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 348,
"cds_start": 68,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "ENST00000357618.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000357618.10",
"protein_id": "ENSP00000417404.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 348,
"cds_start": 68,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "NM_000410.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000470149.5",
"protein_id": "ENSP00000419725.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 345,
"cds_start": 68,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000461397.6",
"protein_id": "ENSP00000420802.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 334,
"cds_start": 68,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000397022.7",
"protein_id": "ENSP00000380217.3",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 325,
"cds_start": 68,
"cds_end": null,
"cds_length": 978,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000349999.8",
"protein_id": "ENSP00000259699.6",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 260,
"cds_start": 68,
"cds_end": null,
"cds_length": 783,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000317896.11",
"protein_id": "ENSP00000313776.7",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 256,
"cds_start": 68,
"cds_end": null,
"cds_length": 771,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000488199.5",
"protein_id": "ENSP00000420559.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 246,
"cds_start": 68,
"cds_end": null,
"cds_length": 741,
"cdna_start": 104,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000336625.12",
"protein_id": "ENSP00000337819.8",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 242,
"cds_start": 68,
"cds_end": null,
"cds_length": 729,
"cdna_start": 112,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000353147.9",
"protein_id": "ENSP00000312342.5",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 168,
"cds_start": 68,
"cds_end": null,
"cds_length": 507,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000352392.8",
"protein_id": "ENSP00000315936.4",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 76,
"cds_start": 68,
"cds_end": null,
"cds_length": 231,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 653,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "n.111G>T",
"hgvs_p": null,
"transcript": "ENST00000486147.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_001384164.1",
"protein_id": "NP_001371093.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 348,
"cds_start": 68,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000485729.2",
"protein_id": "ENSP00000417534.2",
"transcript_support_level": 3,
"aa_start": 23,
"aa_end": null,
"aa_length": 348,
"cds_start": 68,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_001406751.1",
"protein_id": "NP_001393680.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 345,
"cds_start": 68,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_001300749.3",
"protein_id": "NP_001287678.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 337,
"cds_start": 68,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "ENST00000309234.11",
"protein_id": "ENSP00000311698.6",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 337,
"cds_start": 68,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 72,
"cdna_end": null,
"cdna_length": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_139006.3",
"protein_id": "NP_620575.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 334,
"cds_start": 68,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_139009.3",
"protein_id": "NP_620578.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 325,
"cds_start": 68,
"cds_end": null,
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"cdna_start": 80,
"cdna_end": null,
"cdna_length": 5107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_139007.3",
"protein_id": "NP_620576.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 260,
"cds_start": 68,
"cds_end": null,
"cds_length": 783,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_139004.3",
"protein_id": "NP_620573.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 256,
"cds_start": 68,
"cds_end": null,
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"cdna_start": 80,
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"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_001406752.1",
"protein_id": "NP_001393681.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 249,
"cds_start": 68,
"cds_end": null,
"cds_length": 750,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFE",
"gene_hgnc_id": 4886,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Arg23Leu",
"transcript": "NM_139008.3",
"protein_id": "NP_620577.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 246,
"cds_start": 68,
"cds_end": null,
"cds_length": 741,
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{
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],
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}