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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: 1-45014976-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45014976&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45014976,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000374.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.912C>A",
"hgvs_p": "p.Asn304Lys",
"transcript": "NM_000374.5",
"protein_id": "NP_000365.3",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 367,
"cds_start": 912,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000246337.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000374.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.912C>A",
"hgvs_p": "p.Asn304Lys",
"transcript": "ENST00000246337.9",
"protein_id": "ENSP00000246337.4",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 367,
"cds_start": 912,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000374.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246337.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.936C>A",
"hgvs_p": "p.Asn312Lys",
"transcript": "ENST00000894914.1",
"protein_id": "ENSP00000564973.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 375,
"cds_start": 936,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894914.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.927C>A",
"hgvs_p": "p.Asn309Lys",
"transcript": "ENST00000894916.1",
"protein_id": "ENSP00000564975.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 372,
"cds_start": 927,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894916.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.927C>A",
"hgvs_p": "p.Asn309Lys",
"transcript": "ENST00000894918.1",
"protein_id": "ENSP00000564977.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 372,
"cds_start": 927,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894918.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.912C>A",
"hgvs_p": "p.Asn304Lys",
"transcript": "ENST00000894919.1",
"protein_id": "ENSP00000564978.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 366,
"cds_start": 912,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894919.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.903C>A",
"hgvs_p": "p.Asn301Lys",
"transcript": "ENST00000894917.1",
"protein_id": "ENSP00000564976.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 364,
"cds_start": 903,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894917.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.897C>A",
"hgvs_p": "p.Asn299Lys",
"transcript": "ENST00000962747.1",
"protein_id": "ENSP00000632806.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 362,
"cds_start": 897,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962747.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.849C>A",
"hgvs_p": "p.Asn283Lys",
"transcript": "ENST00000652287.1",
"protein_id": "ENSP00000498413.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 346,
"cds_start": 849,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652287.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Asn280Lys",
"transcript": "ENST00000937007.1",
"protein_id": "ENSP00000607066.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 343,
"cds_start": 840,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937007.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.834C>A",
"hgvs_p": "p.Asn278Lys",
"transcript": "ENST00000894920.1",
"protein_id": "ENSP00000564979.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 341,
"cds_start": 834,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894920.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.816C>A",
"hgvs_p": "p.Asn272Lys",
"transcript": "ENST00000894915.1",
"protein_id": "ENSP00000564974.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 335,
"cds_start": 816,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894915.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.807C>A",
"hgvs_p": "p.Asn269Lys",
"transcript": "ENST00000651476.1",
"protein_id": "ENSP00000498668.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 332,
"cds_start": 807,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651476.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.774C>A",
"hgvs_p": "p.Asn258Lys",
"transcript": "ENST00000636293.1",
"protein_id": "ENSP00000490710.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 321,
"cds_start": 774,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636293.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.771C>A",
"hgvs_p": "p.Asn257Lys",
"transcript": "ENST00000937002.1",
"protein_id": "ENSP00000607061.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 320,
"cds_start": 771,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937002.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.774C>A",
"hgvs_p": "p.Asn258Lys",
"transcript": "ENST00000937003.1",
"protein_id": "ENSP00000607062.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 320,
"cds_start": 774,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937003.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.753C>A",
"hgvs_p": "p.Asn251Lys",
"transcript": "ENST00000894921.1",
"protein_id": "ENSP00000564980.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 314,
"cds_start": 753,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894921.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.714C>A",
"hgvs_p": "p.Asn238Lys",
"transcript": "ENST00000936999.1",
"protein_id": "ENSP00000607058.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 301,
"cds_start": 714,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936999.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.711C>A",
"hgvs_p": "p.Asn237Lys",
"transcript": "ENST00000937000.1",
"protein_id": "ENSP00000607059.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 300,
"cds_start": 711,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937000.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Asn229Lys",
"transcript": "ENST00000937004.1",
"protein_id": "ENSP00000607063.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 292,
"cds_start": 687,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937004.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.675C>A",
"hgvs_p": "p.Asn225Lys",
"transcript": "ENST00000937005.1",
"protein_id": "ENSP00000607064.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 288,
"cds_start": 675,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937005.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROD",
"gene_hgnc_id": 12591,
"hgvs_c": "c.669C>A",
"hgvs_p": "p.Asn223Lys",
"transcript": "ENST00000491773.6",
"protein_id": "ENSP00000498551.1",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 286,
"cds_start": 669,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
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}