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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: 19-55388016-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55388016&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55388016,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001363697.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "NM_000991.5",
"protein_id": "NP_000982.2",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344063.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000991.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000344063.7",
"protein_id": "ENSP00000342787.3",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000991.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344063.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000559463.5",
"protein_id": "ENSP00000453319.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559463.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "n.1536C>G",
"hgvs_p": null,
"transcript": "ENST00000426763.3",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000426763.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "NM_001363697.1",
"protein_id": "NP_001350626.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 170,
"cds_start": 292,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363697.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000560055.5",
"protein_id": "ENSP00000452763.1",
"transcript_support_level": 3,
"aa_start": 98,
"aa_end": null,
"aa_length": 170,
"cds_start": 292,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560055.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "NM_001136135.2",
"protein_id": "NP_001129607.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 169,
"cds_start": 292,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136135.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000558815.5",
"protein_id": "ENSP00000452909.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 169,
"cds_start": 292,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558815.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "NM_001136134.1",
"protein_id": "NP_001129606.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 163,
"cds_start": 292,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136134.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000560583.5",
"protein_id": "ENSP00000453029.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 163,
"cds_start": 292,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560583.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929182.1",
"protein_id": "ENSP00000599241.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 155,
"cds_start": 292,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929182.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Arg101Gly",
"transcript": "ENST00000929184.1",
"protein_id": "ENSP00000599243.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 140,
"cds_start": 301,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929184.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000889918.1",
"protein_id": "ENSP00000559977.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889918.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929176.1",
"protein_id": "ENSP00000599235.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929176.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929177.1",
"protein_id": "ENSP00000599236.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929177.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929178.1",
"protein_id": "ENSP00000599237.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929178.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929179.1",
"protein_id": "ENSP00000599238.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929179.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929180.1",
"protein_id": "ENSP00000599239.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929180.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929183.1",
"protein_id": "ENSP00000599242.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929183.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929185.1",
"protein_id": "ENSP00000599244.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929185.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929187.1",
"protein_id": "ENSP00000599246.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929187.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.292C>G",
"hgvs_p": "p.Arg98Gly",
"transcript": "ENST00000929188.1",
"protein_id": "ENSP00000599247.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 137,
"cds_start": 292,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929188.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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}
],
"message": null
}