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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: 19-8261982-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8261982&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8261982,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024552.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "NM_024552.3",
"protein_id": "NP_078828.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251363.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024552.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000251363.10",
"protein_id": "ENSP00000251363.5",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024552.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251363.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ala265Val",
"transcript": "ENST00000559336.5",
"protein_id": "ENSP00000453815.1",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 306,
"cds_start": 794,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559336.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "n.1387C>T",
"hgvs_p": null,
"transcript": "ENST00000595722.5",
"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": "pseudogene",
"feature": "ENST00000595722.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000886743.1",
"protein_id": "ENSP00000556802.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886743.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000886749.1",
"protein_id": "ENSP00000556808.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886749.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000886750.1",
"protein_id": "ENSP00000556809.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886750.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000886753.1",
"protein_id": "ENSP00000556812.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886753.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000886762.1",
"protein_id": "ENSP00000556821.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886762.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000886779.1",
"protein_id": "ENSP00000556838.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886779.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000913046.1",
"protein_id": "ENSP00000583105.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913046.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000913060.1",
"protein_id": "ENSP00000583119.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913060.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000913062.1",
"protein_id": "ENSP00000583121.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913062.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Ala359Val",
"transcript": "ENST00000964423.1",
"protein_id": "ENSP00000634482.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 400,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964423.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000559450.6",
"protein_id": "ENSP00000453509.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559450.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000886737.1",
"protein_id": "ENSP00000556796.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886737.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000886738.1",
"protein_id": "ENSP00000556797.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886738.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000886739.1",
"protein_id": "ENSP00000556798.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886739.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000886740.1",
"protein_id": "ENSP00000556799.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886740.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000886741.1",
"protein_id": "ENSP00000556800.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886741.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000886742.1",
"protein_id": "ENSP00000556801.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886742.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS4",
"gene_hgnc_id": 23747,
"hgvs_c": "c.1058C>T",
"hgvs_p": "p.Ala353Val",
"transcript": "ENST00000886744.1",
"protein_id": "ENSP00000556803.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 394,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
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}