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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: 2-74483114-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74483114&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74483114,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001376129.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "NM_022492.6",
"protein_id": "NP_071937.4",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 519,
"cds_start": 19,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233623.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022492.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000233623.11",
"protein_id": "ENSP00000233623.6",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 519,
"cds_start": 19,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022492.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233623.11"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000410003.5",
"protein_id": "ENSP00000387213.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 340,
"cds_start": 19,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410003.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000442235.6",
"protein_id": "ENSP00000416823.3",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 285,
"cds_start": 19,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442235.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.19A>G",
"hgvs_p": null,
"transcript": "ENST00000424122.5",
"protein_id": "ENSP00000388495.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000424122.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.28A>G",
"hgvs_p": null,
"transcript": "ENST00000464241.5",
"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": "retained_intron",
"feature": "ENST00000464241.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888468.1",
"protein_id": "ENSP00000558527.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 539,
"cds_start": 19,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888468.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000933488.1",
"protein_id": "ENSP00000603547.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 538,
"cds_start": 19,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933488.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "NM_001376129.1",
"protein_id": "NP_001363058.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 537,
"cds_start": 19,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376129.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888467.1",
"protein_id": "ENSP00000558526.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 537,
"cds_start": 19,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888467.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888472.1",
"protein_id": "ENSP00000558531.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 536,
"cds_start": 19,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888472.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000933490.1",
"protein_id": "ENSP00000603549.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 529,
"cds_start": 19,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933490.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "NM_001376130.1",
"protein_id": "NP_001363059.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 518,
"cds_start": 19,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376130.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888469.1",
"protein_id": "ENSP00000558528.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 518,
"cds_start": 19,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888469.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "NM_001376132.1",
"protein_id": "NP_001363061.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 517,
"cds_start": 19,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376132.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888463.1",
"protein_id": "ENSP00000558522.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 517,
"cds_start": 19,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888463.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "NM_001376133.1",
"protein_id": "NP_001363062.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 516,
"cds_start": 19,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376133.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888464.1",
"protein_id": "ENSP00000558523.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 516,
"cds_start": 19,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888464.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888470.1",
"protein_id": "ENSP00000558529.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 509,
"cds_start": 19,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888470.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888466.1",
"protein_id": "ENSP00000558525.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 507,
"cds_start": 19,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888466.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888471.1",
"protein_id": "ENSP00000558530.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 503,
"cds_start": 19,
"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": "ENST00000888471.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Thr7Ala",
"transcript": "ENST00000888465.1",
"protein_id": "ENSP00000558524.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 501,
"cds_start": 19,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888465.1"
},
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}