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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: 16-2228516-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2228516&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2228516,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004424.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "NM_004424.5",
"protein_id": "NP_004415.4",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 784,
"cds_start": 302,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301727.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004424.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000301727.9",
"protein_id": "ENSP00000301727.4",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 784,
"cds_start": 302,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004424.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301727.9"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000564139.5",
"protein_id": "ENSP00000457672.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 654,
"cds_start": 302,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564139.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000565090.5",
"protein_id": "ENSP00000456760.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 607,
"cds_start": 302,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565090.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Ala128Thr",
"transcript": "ENST00000956543.1",
"protein_id": "ENSP00000626602.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 817,
"cds_start": 382,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956543.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000862876.1",
"protein_id": "ENSP00000532935.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 788,
"cds_start": 302,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862876.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000862882.1",
"protein_id": "ENSP00000532941.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 787,
"cds_start": 302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862882.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000862875.1",
"protein_id": "ENSP00000532934.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 783,
"cds_start": 302,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862875.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000956546.1",
"protein_id": "ENSP00000626605.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 781,
"cds_start": 302,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956546.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000862879.1",
"protein_id": "ENSP00000532938.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 780,
"cds_start": 302,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862879.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000956544.1",
"protein_id": "ENSP00000626603.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 778,
"cds_start": 302,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956544.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000927664.1",
"protein_id": "ENSP00000597723.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 777,
"cds_start": 302,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927664.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000862877.1",
"protein_id": "ENSP00000532936.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 774,
"cds_start": 302,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862877.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000862880.1",
"protein_id": "ENSP00000532939.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 774,
"cds_start": 302,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862880.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000862881.1",
"protein_id": "ENSP00000532940.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 773,
"cds_start": 302,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862881.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000956545.1",
"protein_id": "ENSP00000626604.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 773,
"cds_start": 302,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956545.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Ala128Thr",
"transcript": "ENST00000956547.1",
"protein_id": "ENSP00000626606.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 746,
"cds_start": 382,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956547.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000927663.1",
"protein_id": "ENSP00000597722.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 714,
"cds_start": 302,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927663.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000862878.1",
"protein_id": "ENSP00000532937.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 713,
"cds_start": 302,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862878.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "ENST00000927665.1",
"protein_id": "ENSP00000597724.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 682,
"cds_start": 302,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927665.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "NM_001288776.2",
"protein_id": "NP_001275705.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 654,
"cds_start": 302,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288776.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E4F1",
"gene_hgnc_id": 3121,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Gly101Asp",
"transcript": "NM_001288778.2",
"protein_id": "NP_001275707.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 607,
"cds_start": 302,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"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
}