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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: 10-80514035-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80514035&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 80514035,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030927.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_030927.4",
"protein_id": "NP_112189.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429989.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030927.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000429989.8",
"protein_id": "ENSP00000396270.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030927.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429989.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.542C>T",
"hgvs_p": "p.Thr181Ile",
"transcript": "ENST00000372164.7",
"protein_id": "ENSP00000361237.3",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 253,
"cds_start": 542,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372164.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Ile",
"transcript": "ENST00000714439.1",
"protein_id": "ENSP00000519708.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 284,
"cds_start": 635,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714439.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Ile",
"transcript": "ENST00000910484.1",
"protein_id": "ENSP00000580543.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 284,
"cds_start": 635,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910484.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Thr212Ile",
"transcript": "ENST00000910486.1",
"protein_id": "ENSP00000580545.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 284,
"cds_start": 635,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910486.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_001351266.2",
"protein_id": "NP_001338195.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351266.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_001351267.4",
"protein_id": "NP_001338196.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351267.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_001351268.2",
"protein_id": "NP_001338197.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351268.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_001351269.2",
"protein_id": "NP_001338198.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351269.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_001351270.2",
"protein_id": "NP_001338199.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351270.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_001351271.2",
"protein_id": "NP_001338200.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351271.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "NM_001351272.2",
"protein_id": "NP_001338201.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351272.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000372156.5",
"protein_id": "ENSP00000361229.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372156.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000372158.6",
"protein_id": "ENSP00000361231.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372158.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000714437.1",
"protein_id": "ENSP00000519706.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714437.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000714440.1",
"protein_id": "ENSP00000519709.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714440.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000714441.1",
"protein_id": "ENSP00000519710.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714441.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000714442.1",
"protein_id": "ENSP00000519711.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714442.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000714443.1",
"protein_id": "ENSP00000519712.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714443.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000714444.1",
"protein_id": "ENSP00000519713.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714444.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSPAN14",
"gene_hgnc_id": 23303,
"hgvs_c": "c.593C>T",
"hgvs_p": "p.Thr198Ile",
"transcript": "ENST00000714445.1",
"protein_id": "ENSP00000519714.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 593,
"cds_end": null,
"cds_length": 813,
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"phenotype_combined": "not specified",
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}
],
"message": null
}