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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: 2-63882469-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63882469&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63882469,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006759.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.259C>G",
"hgvs_p": "p.Gln87Glu",
"transcript": "NM_006759.4",
"protein_id": "NP_006750.3",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 508,
"cds_start": 259,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "ENST00000337130.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.259C>G",
"hgvs_p": "p.Gln87Glu",
"transcript": "ENST00000337130.10",
"protein_id": "ENSP00000338703.5",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 508,
"cds_start": 259,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "NM_006759.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000394417.7",
"protein_id": "ENSP00000377939.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 497,
"cds_start": 226,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000467648.6",
"protein_id": "ENSP00000420793.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 497,
"cds_start": 226,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2057,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.358C>G",
"hgvs_p": null,
"transcript": "ENST00000475550.5",
"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": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.-102C>G",
"hgvs_p": null,
"transcript": "NM_001377526.1",
"protein_id": "NP_001364455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.-102C>G",
"hgvs_p": null,
"transcript": "NM_001377527.1",
"protein_id": "NP_001364456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.-102C>G",
"hgvs_p": null,
"transcript": "NM_001377528.1",
"protein_id": "NP_001364457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.-102C>G",
"hgvs_p": null,
"transcript": "NM_001377529.1",
"protein_id": "NP_001364458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Gln96Glu",
"transcript": "ENST00000445915.6",
"protein_id": "ENSP00000411803.2",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 517,
"cds_start": 286,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "NM_001001521.2",
"protein_id": "NP_001001521.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 497,
"cds_start": 226,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "NM_001377524.1",
"protein_id": "NP_001364453.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 497,
"cds_start": 226,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "NM_001377525.1",
"protein_id": "NP_001364454.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 497,
"cds_start": 226,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000613823.2",
"protein_id": "ENSP00000482043.2",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 463,
"cds_start": 226,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000677841.1",
"protein_id": "ENSP00000502898.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 460,
"cds_start": 226,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000491621.5",
"protein_id": "ENSP00000420342.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 211,
"cds_start": 226,
"cds_end": null,
"cds_length": 638,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.235C>G",
"hgvs_p": "p.Gln79Glu",
"transcript": "ENST00000497883.5",
"protein_id": "ENSP00000420131.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 174,
"cds_start": 235,
"cds_end": null,
"cds_length": 525,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000475462.5",
"protein_id": "ENSP00000419335.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 169,
"cds_start": 226,
"cds_end": null,
"cds_length": 512,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000472047.5",
"protein_id": "ENSP00000419238.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 149,
"cds_start": 226,
"cds_end": null,
"cds_length": 452,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000488245.6",
"protein_id": "ENSP00000419442.2",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 134,
"cds_start": 226,
"cds_end": null,
"cds_length": 406,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "ENST00000482668.5",
"protein_id": "ENSP00000419548.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 103,
"cds_start": 226,
"cds_end": null,
"cds_length": 314,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Gln76Glu",
"transcript": "XM_024453120.2",
"protein_id": "XP_024308888.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 497,
"cds_start": 226,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2176,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.*236C>G",
"hgvs_p": null,
"transcript": "ENST00000466642.5",
"protein_id": "ENSP00000418619.1",
"transcript_support_level": 4,
"aa_start": null,
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"clinvar_submissions_summary": "US:1",
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}
],
"message": null
}