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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: 13-102839828-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=102839828&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 102839828,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017693.4",
"consequences": [
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "NM_017693.4",
"protein_id": "NP_060163.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257336.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017693.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000257336.6",
"protein_id": "ENSP00000257336.1",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017693.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257336.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.809G>T",
"hgvs_p": "p.Gly270Val",
"transcript": "ENST00000448849.3",
"protein_id": "ENSP00000412794.2",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 281,
"cds_start": 809,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448849.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "BIVM-ERCC5",
"gene_hgnc_id": 43690,
"hgvs_c": "c.1450+25G>T",
"hgvs_p": null,
"transcript": "ENST00000639435.1",
"protein_id": "ENSP00000491742.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1640,
"cds_start": null,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "BIVM-ERCC5",
"gene_hgnc_id": 43690,
"hgvs_c": "c.763+25G>T",
"hgvs_p": null,
"transcript": "ENST00000639132.1",
"protein_id": "ENSP00000492684.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1411,
"cds_start": null,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639132.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "n.1520G>T",
"hgvs_p": null,
"transcript": "ENST00000490317.1",
"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": "ENST00000490317.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1568G>T",
"hgvs_p": "p.Gly523Val",
"transcript": "ENST00000651228.1",
"protein_id": "ENSP00000498493.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 534,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651228.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000652084.1",
"protein_id": "ENSP00000498544.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652084.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909441.1",
"protein_id": "ENSP00000579500.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909441.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909442.1",
"protein_id": "ENSP00000579501.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909442.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909444.1",
"protein_id": "ENSP00000579503.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909444.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909445.1",
"protein_id": "ENSP00000579504.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909445.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909447.1",
"protein_id": "ENSP00000579506.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909447.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909448.1",
"protein_id": "ENSP00000579507.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909448.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909449.1",
"protein_id": "ENSP00000579508.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909449.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909450.1",
"protein_id": "ENSP00000579509.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909450.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909452.1",
"protein_id": "ENSP00000579511.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909452.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909453.1",
"protein_id": "ENSP00000579512.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909453.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909454.1",
"protein_id": "ENSP00000579513.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909454.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909455.1",
"protein_id": "ENSP00000579514.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909455.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909457.1",
"protein_id": "ENSP00000579516.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909457.1"
},
{
"aa_ref": "G",
"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": "BIVM",
"gene_hgnc_id": 16034,
"hgvs_c": "c.1475G>T",
"hgvs_p": "p.Gly492Val",
"transcript": "ENST00000909458.1",
"protein_id": "ENSP00000579517.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 503,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909458.1"
},
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{
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{
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],
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}