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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: 17-59893236-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59893236&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59893236,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003161.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_003161.4",
"protein_id": "NP_003152.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 525,
"cds_start": 52,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225577.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003161.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000225577.9",
"protein_id": "ENSP00000225577.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 525,
"cds_start": 52,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003161.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225577.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000406116.7",
"protein_id": "ENSP00000384335.3",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 451,
"cds_start": 52,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406116.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000880476.1",
"protein_id": "ENSP00000550535.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 532,
"cds_start": 52,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880476.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000961619.1",
"protein_id": "ENSP00000631678.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 521,
"cds_start": 52,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961619.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000880475.1",
"protein_id": "ENSP00000550534.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 504,
"cds_start": 52,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880475.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_001272042.2",
"protein_id": "NP_001258971.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 502,
"cds_start": 52,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272042.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000443572.6",
"protein_id": "ENSP00000441993.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 502,
"cds_start": 52,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443572.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000928773.1",
"protein_id": "ENSP00000598832.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 496,
"cds_start": 52,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928773.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_001369669.1",
"protein_id": "NP_001356598.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 489,
"cds_start": 52,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369669.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000880474.1",
"protein_id": "ENSP00000550533.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 489,
"cds_start": 52,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880474.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000880477.1",
"protein_id": "ENSP00000550536.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 489,
"cds_start": 52,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880477.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000961617.1",
"protein_id": "ENSP00000631676.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 489,
"cds_start": 52,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961617.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000928772.1",
"protein_id": "ENSP00000598831.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 481,
"cds_start": 52,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928772.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_001272043.2",
"protein_id": "NP_001258972.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 451,
"cds_start": 52,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272043.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_001369671.1",
"protein_id": "NP_001356600.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 445,
"cds_start": 52,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369671.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000928774.1",
"protein_id": "ENSP00000598833.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 445,
"cds_start": 52,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928774.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "ENST00000961618.1",
"protein_id": "ENSP00000631677.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 442,
"cds_start": 52,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961618.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_001369674.1",
"protein_id": "NP_001356603.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 219,
"cds_start": 52,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369674.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_001369675.1",
"protein_id": "NP_001356604.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 219,
"cds_start": 52,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369675.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_001369676.1",
"protein_id": "NP_001356605.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 207,
"cds_start": 52,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369676.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KB1",
"gene_hgnc_id": 10436,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Asp18Asn",
"transcript": "NM_001369677.1",
"protein_id": "NP_001356606.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 207,
"cds_start": 52,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}