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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: 19-42293039-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42293039&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42293039,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000681038.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6280G>A",
"hgvs_p": "p.Ala2094Thr",
"transcript": "NM_001386298.1",
"protein_id": "NP_001373227.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2517,
"cds_start": 6280,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 6420,
"cdna_end": null,
"cdna_length": 8299,
"mane_select": "ENST00000681038.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6280G>A",
"hgvs_p": "p.Ala2094Thr",
"transcript": "ENST00000681038.1",
"protein_id": "ENSP00000505728.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2517,
"cds_start": 6280,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 6420,
"cdna_end": null,
"cdna_length": 8299,
"mane_select": "NM_001386298.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3553G>A",
"hgvs_p": "p.Ala1185Thr",
"transcript": "ENST00000575354.6",
"protein_id": "ENSP00000458663.2",
"transcript_support_level": 1,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1608,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 3593,
"cdna_end": null,
"cdna_length": 5473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6280G>A",
"hgvs_p": "p.Ala2094Thr",
"transcript": "NM_001304815.2",
"protein_id": "NP_001291744.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2517,
"cds_start": 6280,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 6355,
"cdna_end": null,
"cdna_length": 8234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6277G>A",
"hgvs_p": "p.Ala2093Thr",
"transcript": "NM_001379480.1",
"protein_id": "NP_001366409.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2516,
"cds_start": 6277,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 6417,
"cdna_end": null,
"cdna_length": 8296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6280G>A",
"hgvs_p": "p.Ala2094Thr",
"transcript": "NM_001379482.1",
"protein_id": "NP_001366411.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2516,
"cds_start": 6280,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 6420,
"cdna_end": null,
"cdna_length": 8296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6280G>A",
"hgvs_p": "p.Ala2094Thr",
"transcript": "NM_001439183.1",
"protein_id": "NP_001426112.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2516,
"cds_start": 6280,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 6355,
"cdna_end": null,
"cdna_length": 8231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6277G>A",
"hgvs_p": "p.Ala2093Thr",
"transcript": "NM_001439184.1",
"protein_id": "NP_001426113.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2515,
"cds_start": 6277,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 6417,
"cdna_end": null,
"cdna_length": 8293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6277G>A",
"hgvs_p": "p.Ala2093Thr",
"transcript": "NM_001439185.1",
"protein_id": "NP_001426114.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2515,
"cds_start": 6277,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 6352,
"cdna_end": null,
"cdna_length": 8228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6280G>A",
"hgvs_p": "p.Ala2094Thr",
"transcript": "NM_001439186.1",
"protein_id": "NP_001426115.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2515,
"cds_start": 6280,
"cds_end": null,
"cds_length": 7548,
"cdna_start": 6355,
"cdna_end": null,
"cdna_length": 8228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6280G>A",
"hgvs_p": "p.Ala2094Thr",
"transcript": "NM_001439187.1",
"protein_id": "NP_001426116.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2514,
"cds_start": 6280,
"cds_end": null,
"cds_length": 7545,
"cdna_start": 6355,
"cdna_end": null,
"cdna_length": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6274G>A",
"hgvs_p": "p.Ala2092Thr",
"transcript": "ENST00000572681.6",
"protein_id": "ENSP00000459719.1",
"transcript_support_level": 5,
"aa_start": 2092,
"aa_end": null,
"aa_length": 2514,
"cds_start": 6274,
"cds_end": null,
"cds_length": 7545,
"cdna_start": 6342,
"cdna_end": null,
"cdna_length": 8218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6277G>A",
"hgvs_p": "p.Ala2093Thr",
"transcript": "NM_001439188.1",
"protein_id": "NP_001426117.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2513,
"cds_start": 6277,
"cds_end": null,
"cds_length": 7542,
"cdna_start": 6352,
"cdna_end": null,
"cdna_length": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3553G>A",
"hgvs_p": "p.Ala1185Thr",
"transcript": "NM_015125.5",
"protein_id": "NP_055940.3",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1608,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3550G>A",
"hgvs_p": "p.Ala1184Thr",
"transcript": "NM_001439189.1",
"protein_id": "NP_001426118.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1607,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4824,
"cdna_start": 3786,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3553G>A",
"hgvs_p": "p.Ala1185Thr",
"transcript": "NM_001439190.1",
"protein_id": "NP_001426119.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1607,
"cds_start": 3553,
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"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3553G>A",
"hgvs_p": "p.Ala1185Thr",
"transcript": "NM_001379484.1",
"protein_id": "NP_001366413.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 5662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3550G>A",
"hgvs_p": "p.Ala1184Thr",
"transcript": "NM_001439191.1",
"protein_id": "NP_001426120.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3550,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 3786,
"cdna_end": null,
"cdna_length": 5662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Ala1183Thr",
"transcript": "ENST00000160740.7",
"protein_id": "ENSP00000160740.3",
"transcript_support_level": 5,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1606,
"cds_start": 3547,
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"cds_length": 4821,
"cdna_start": 4232,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.3553G>A",
"hgvs_p": "p.Ala1185Thr",
"transcript": "NM_001379485.1",
"protein_id": "NP_001366414.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1605,
"cds_start": 3553,
"cds_end": null,
"cds_length": 4818,
"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 5659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6280G>A",
"hgvs_p": "p.Ala2094Thr",
"transcript": "XM_047438492.1",
"protein_id": "XP_047294448.1",
"transcript_support_level": null,
"aa_start": 2094,
"aa_end": null,
"aa_length": 2517,
"cds_start": 6280,
"cds_end": null,
"cds_length": 7554,
"cdna_start": 6732,
"cdna_end": null,
"cdna_length": 8611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIC",
"gene_hgnc_id": 14214,
"hgvs_c": "c.6277G>A",
"hgvs_p": "p.Ala2093Thr",
"transcript": "XM_011526662.3",
"protein_id": "XP_011524964.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2516,
"cds_start": 6277,
"cds_end": null,
"cds_length": 7551,
"cdna_start": 6417,
"cdna_end": null,
"cdna_length": 8296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
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"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}