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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: 3-39098460-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=39098460&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 39098460,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031899.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Glu367Lys",
"transcript": "NM_031899.4",
"protein_id": "NP_114105.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 440,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319283.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031899.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Glu367Lys",
"transcript": "ENST00000319283.8",
"protein_id": "ENSP00000313869.3",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 440,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031899.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319283.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "n.*410G>A",
"hgvs_p": null,
"transcript": "ENST00000452389.7",
"protein_id": "ENSP00000403167.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000452389.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "n.*99G>A",
"hgvs_p": null,
"transcript": "ENST00000453680.6",
"protein_id": "ENSP00000392020.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453680.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "n.*410G>A",
"hgvs_p": null,
"transcript": "ENST00000452389.7",
"protein_id": "ENSP00000403167.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000452389.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "n.*99G>A",
"hgvs_p": null,
"transcript": "ENST00000453680.6",
"protein_id": "ENSP00000392020.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453680.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Glu407Lys",
"transcript": "ENST00000437458.4",
"protein_id": "ENSP00000392993.2",
"transcript_support_level": 4,
"aa_start": 407,
"aa_end": null,
"aa_length": 480,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437458.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Glu382Lys",
"transcript": "ENST00000695426.1",
"protein_id": "ENSP00000511909.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 455,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695426.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1120G>A",
"hgvs_p": "p.Glu374Lys",
"transcript": "ENST00000882005.1",
"protein_id": "ENSP00000552064.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 447,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882005.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Glu370Lys",
"transcript": "ENST00000957148.1",
"protein_id": "ENSP00000627207.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 443,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957148.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Glu366Lys",
"transcript": "ENST00000881998.1",
"protein_id": "ENSP00000552057.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 439,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881998.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000441081.2",
"protein_id": "ENSP00000411104.2",
"transcript_support_level": 4,
"aa_start": 365,
"aa_end": null,
"aa_length": 438,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441081.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1093G>A",
"hgvs_p": "p.Glu365Lys",
"transcript": "ENST00000695428.1",
"protein_id": "ENSP00000511910.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 438,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695428.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Glu362Lys",
"transcript": "ENST00000695591.1",
"protein_id": "ENSP00000512043.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 435,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695591.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000925760.1",
"protein_id": "ENSP00000595819.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 421,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925760.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"transcript": "ENST00000957150.1",
"protein_id": "ENSP00000627209.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 420,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957150.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "ENST00000695424.1",
"protein_id": "ENSP00000511907.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 414,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695424.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"transcript": "NM_001410726.1",
"protein_id": "NP_001397655.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 410,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410726.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"transcript": "ENST00000695414.1",
"protein_id": "ENSP00000511895.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 410,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695414.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "ENST00000695442.1",
"protein_id": "ENSP00000511915.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 409,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695442.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Glu332Lys",
"transcript": "ENST00000881996.1",
"protein_id": "ENSP00000552055.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 405,
"cds_start": 994,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881996.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GORASP1",
"gene_hgnc_id": 16769,
"hgvs_c": "c.988G>A",
"hgvs_p": "p.Glu330Lys",
"transcript": "ENST00000925759.1",
"protein_id": "ENSP00000595818.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 403,
"cds_start": 988,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}